Diagnosis of fetal and neonatal alloimune thrombocytopenia and successful therapy with intravenous immunoglobulin

We present a case of fetal and neonatal alloimmune thrombocytopenia (FNAT) in secundipara woman. In her first pregnancy, she delivered a newborn with a heavy form of neonatal autoimmune thrombocytopenia. The diagnosis was confirmed by the evidence of anti HPA-1a antibodies in HPA-1a negative mother and a positive homozygous HPA-1a father. The newborn was treated with platelet transfusions (PT) and corticosteroid therapy because of a developed widespread skin petechiae and markedly low platelet count (19 × 109). According to the outcome of the first pregnancy in the index pregnancy the therapeutic regime consisted of a weekly administration of intravenous immunoglobulin (IVIG) in 1mg/kg of mother weight dose from week 20 until week 36. There were no maternal or fetal complications throughout pregnancy and a vital, female newborn 3720 g. was delivered by elective Caesarean section in the 37 weeks of gestation. The newborn had no clinical signs of FNAT, and there was normal platelet count of 146 × 109/L and negative test for antithrombocytic IgG antibodies in umbilical cord blood. We concluded that the therapy regime was optimal because of the lack of clinical signs of disease as well as normal laboratory findings. Due to low incidence and specifi c antenatal diagnostic protocol and treatment, it is recommended to present and collect cases of FNAT

Diagnosis of fetal and neonatal alloimune thrombocytopenia and successful therapy with intravenous immunoglobulin

We present a case of fetal and neonatal alloimmune thrombocytopenia (FNAT) in secundipara woman. In her first pregnancy, she delivered a newborn with a heavy form of neonatal autoimmune thrombocytopenia. The diagnosis was confirmed by the evidence of anti HPA-1a antibodies in HPA-1a negative mother and a positive homozygous HPA-1a father. The newborn was treated with platelet transfusions (PT) and corticosteroid therapy because of a developed widespread skin petechiae and markedly low platelet count (19 × 109). According to the outcome of the first pregnancy in the index pregnancy the therapeutic regime consisted of a weekly administration of intravenous immunoglobulin (IVIG) in 1mg/kg of mother weight dose from week 20 until week 36. There were no maternal or fetal complications throughout pregnancy and a vital, female newborn 3720 g. was delivered by elective Caesarean section in the 37 weeks of gestation. The newborn had no clinical signs of FNAT, and there was normal platelet count of 146 × 109/L and negative test for antithrombocytic IgG antibodies in umbilical cord blood. We concluded that the therapy regime was optimal because of the lack of clinical signs of disease as well as normal laboratory findings. Due to low incidence and specifi c antenatal diagnostic protocol and treatment, it is recommended to present and collect cases of FNAT

Association of Angiotensin-Converting Enzyme Insertion-Deletion Polymorphism with Preeclampsia

The aim of this study was to determine if insertion-deletion polymorphism of angiotensin-converting enzyme is a risk factor for the development of preeclampsia. Sixty women with preeclampsia and 50 normotensive pregnant women were included in this study. Preeclampsia was defined as blood pressure > 140/90 mmHg in a previously normotensive women with proteinuria >300 mg/L in a 24-hours. Twelve women also had preeclampsia in previous pregnancy. The genotyping of polymorphism in the intron 16 of the angiotensin-converting enzyme was performed by the polymerase chain reaction followed by the agarose electrophoresis. The patients were divided into three groups according to the presence (I) or absence (D) of insertional polymorphism (II, ID, and DD). Genotype distribution and allele frequencies were compared by Mantel-Haenszel c 2 testing. The frequency of DD genotype was not significantly higher in women with preeclampsia (26/60)than in the control group (14/50, p=0.096). The D allele frequency was significantly higher in 17 women with preeclampsias who required delivery before 34 weeks of pregnancy (0.735), than in 43 women in whom obstetric complications took place after 34 weeks of pregnancy (0.56, p=0.036). The D allele frequency was 0.83 in women having recurrent preeclampsia, i.e. significantly higher compared with women, who were for the first time, experienced preeclampsia (0.57, p=0.013). This study showed a significantly positive association between D allele frequency and risk of recurrent preeclampsia and preterm delivery before 34 weeks of pregnancy. The deletion genotype could be an important contributing factor for an early onset and recurrent preeclampsia

FROM FETAL TO NEONATAL NEUROLOGY

Posljednjih nekoliko godina sve se veći značaj pridaje mogućim prenatalnim čimbenicima oštećenja mozga u djece s neurološkim oštećenjem. Dokazano je da četvrtina djece umrle tijekom ranog neonatalnog razdoblja imaju prenatalno oštećenje mozga. Nadalje, postoje snažni dokazi da u većine terminske djece oboljele od cerebralne paralize nije razlog perinatalna asfiksija, nego uzroke treba tražiti još za vrijeme intrauterinog života. Praćenje i razvoj fetalnih, odnosno neonatalnih pokreta opisani su kao važan proces sazrijevnja i vrlo osjetljiv pokazatelj cjelokupnog neurološkog, odnosno budućeg kognitivnog statusa djeteta. Pojava visoko kvalitetnih 3D/4D ultrazvučnih aparata omogućila je napredak u analizi obrazaca fetalnih pokreta. Promatranje u stvarnom vremenu s dovoljno dinamike i s dobrom rezolucijom prikaza omogućilo je stvaranje novog prenatalnog KANET brojevnog testa. Parametri koji su korišteni u tom testu rezultat su prethodno provedenih multicentričnih istraživanja fetalnog ponašanja primjenom 2D ultrazvuka i neonatalnih znakova preporučenih od Amiel-Tison. Otkako je primjena 4D ultrazvuka omogućila prikaz i vrednovanje fetalnog lica i malih anatomskih struktura, pokreti usta, očiju i prstiju uvedeni su kao posebne varijable u vrednovanju testa. Prednost je također i primjena dijagnostičkih kriterija u fetalnom i neonatalnom razdoblju. Neonatalna neurologija je novo obećavajuće područje za mogućnost prenatalnog neurološkog testiranja.In recent years increasing emphasis has been placed on prenatal origin of brain injury in the case of neurologically impaired infants. It was found that 25% of infants who died within one neonatal week had prenatal brain damage. Furthermore, a strong evidence was provided that most examples of cerebral palsy in full term infants were not the result of perinatal asphyxial events, but of prenatal intrauterine problems. The development of movement patterns has been described as a major maturational process and a sensitive indicator of neurobehavioral organization and future temperamental and cognitive status. Further advancement in the analysis of fetal movement patterns was the introduction of high quality 3D/4DE ultrasound which allowed the observer to carry out real-time observations with sufficient dynamics and good image resolution and enabled production of new prenatal scoring test KANET. The parameters used in the test are products of previously conducted multicentric research on fetal behaviour assessed by 2D sonography combined with neonatal signs suggested by Amiel-Tison. Since 4D enabled the evaluation of face and small anatomic parts, the movements of mouth, eyes and fingers are enrolled in the test as special variables. There is also the advantage that some criteria for the diagnostic assessment can be used for the fetus as well as for the young infant. Neonatal neurology is new promising field for evaluation of antenatal neurobehaviour testing

Thromboprophylaxis in pregnant patient-specific risks

Background: Pregnancy and the puerperium are well-established risk factors for venous thromboembolism. Prothrombotic changes start after conception and normal coagulation returns eight weeks after the labour. The risk of DVT is approximately twice as high after caesarean delivery than vaginal birth. Specific risks: Inherited or acquired thrombophilias increase thromboembolic risk and influence the approach to thromboprophylaxis. Additional factors that increase thrombotic risk include immobilisation, such as bed rest for pregnancy complications, surgery including caesarean section, ovarian hyperstimulation during gonadotropin use for in vitro fertilisation, trauma and malignancy. The preferred agents for thromboprophylaxis in pregnancy are heparin compounds; these agents do not cross the placenta and therefore appears safe for the fetus. Because of the theoretical risk of epidural spinal haemorrhage in women receiving heparin that undergo epidural or spinal anaesthesia many anaesthesiologist will not perform neuraxial regional anaesthesia in women who have recently received heparin. Anaesthesia guidelines advise waiting to insert the needle at least 10 to 12 hours after the last prophylactic dose of LMWH, and at least 24 hours after the last therapeutic dose. Conclusion: Despite the increased risk of thrombosis in pregnancy, anticoagulants are not routinely indicated, because the risks usually outweigh the benefits. The exception is women on life-long anticoagulation or women with history of thrombosis or thrombophylia.Heparin therapy must be interrupted temporarily during the immediate peripartum interval to minimise the risk of haemorrhage and to allow for the option of regional anaesthesia

FETAL CARDIAC SCREENING IN PROTECTION FROM PERINATAL MORTALITY AND MORBIDITY – THE NEW, VERY IMPORTANT ROLE OF FETAL ECHOCARDIOGRAPHY IN OBSTETRICS AND PEDIATRIC CARDIOLOGY

Cilj: Osnovni je cilj ovog pregleda istaknuti vrijednost fetalnog kardiološkog probira (FKP) u zaštiti perinatalnog morbiditeta i mortaliteta uzevši u obzir suvremene dijagnostičke i terapijske mogućnosti i nova znanstvena otkrića. Istaknute su indikacije za FKP prema stupnju rizika, kako tablično tako i u opsežnoj raspravi koja uvažava timski rad i interpretira nalaz uzimanjem u obzir klasičnih smjernica stručnih društava (engl. Classical of recommendations - COR) i rasprave o bolesniku zasnovane na dokazima (engl. Level of evidence - LOE). Metode i rezultati izvedeni su proučavanjem smjernica stručnih društava za fetalnu pedijatrijsku kardiologiju: American Heart Association – AHA, Asociation of European Pediatric Cardiology – AEPC), International Society of Ultrasound in Obstetrics and Ginecology – ISOUG) te druge opsežne novije literature. Ističu se interesi fetalne kardiološke medicine uključujući dijagnozu prirođenih srčanih bolesti i aritmija, procjenu funkcije fetalnog kardiovaskularnog sustava (KVS) i raspoložive metode intrauterinog liječenja, kao i moguću potrebu neposredne ili vrlo rane intervencije nakon porođaja. Opsežnom raspravom uz brojne literaturne citate i tabličnim prikazom istaknute su referalne indikacije za FKP, čimbenici koji povećavaju rizik od prirođenih srčanih grješaka (PSG) i drugih srčanih bolesti (aritmije i kardiomiopatije) te populacijski pregled ekstrakardijalnih anomalija (EKA) koje imaju visok posljedični rizik za pridruženu srčanu bolest. Tekstu je uz tablice priloženo nekoliko važnih crteža ili ehokardiografskih prikaza koji na svoj način prožimaju zajedničke nalaze opstetričara i pedijatrijskog kardiologa-fetologa. Na kraju su istaknuta istraživanja koja dokazuju kako primjena i uvažavanje fetalnog kardiološkog probira pozitivno utječe na smanjenje perinatalnog morbiditeta i mortaliteta, posebno na primjeru složenih PSG. Zaključak: U posljednjih 20 godina fetalna kardiološka medicina je tako uznapredovala u dijagnostičkom i terapijskom smislu da značajno utječe na ukupni perinatalni morbiditet i mortalitet, osobito stoga što su PSG najčešće kongenitalne anomalije. Precizna kardiološka fetalna dijagnostika, sve brojniji terapijski pristupi u fetalno srce, kako medikamentni tako i intervencijski te dinamičan razvoj novih tehnologija doveli su fetalnu kardiološku medicinu do razine bez koje se više ne može zamisliti suvremena medicina u jednoj zemlji.Objective: The main objective of this review is to highlight the value of fetal cardiac screening in the protection from perinatal morbidity and mortality by respecting modern scientifi c, diagnostic and therapeutic possibilities. Indications for fetal cardiac screening according to the level of risk are highlighted, both tabularly and in an extensive discussion that takes into account teamwork and interprets fi ndings by taking into account Class of Recommendation (COR) and evidence-based patient discussions, Level of Evidence (LOE). Methods and results are derived from studying the guidelines of the American Heart Association (AHA), Association of European Pediatric Cardiology (AEPC), International Society of Ultrasound in Obstetrics and Gynecology (ISOUG), and other extensive recent literature. The aim is to highlight the interests of fetal cardiac medicine, including the diagnosis of congenital heart disease (CHD) and arrhythmias, assessment of fetal cardiovascular function and available methods of intrauterine treatment, as well as of immediate or early postnatal intervention. Extensive discussion with numerous literature citations and tabular presentation highlights the referral indications for fetal cardiac screening (FCS), factors that increase the risk of CHD and other heart diseases (arrhythmias and cardiomyopathies), and a population overview of extracardiac abnormalities associated with heart diseases. Along with the inevitable tables, the text is accompanied by several important drawings or echocardiographic representations that in their own way permeate the joint fi ndings of obstetricians and pediatric cardiologists-fetologists. Research confi rming that the application and consideration of fetal cardiac screening has a positive effect on reducing perinatal morbidity and mortality, especially in the case of complex heart defects, is presented at the end. Conclusion: In the last 20 years, fetal cardiac medicine has advanced so much in diagnostic and therapeutic terms that it signifi cantly affects overall perinatal morbidity and mortality, especially because CHDs are the most common congenital anomalies. Accurate cardiac fetal diagnosis, increasing therapeutic approaches to the fetal heart, both medical and interventional, and dynamic development of new technologies have brought fetal cardiac medicine to a level without which modern medicine in any country can no longer be imagined

SONOSCOPE, FICTION OR REALITY?

U zadnjih nekoliko godina u literaturi su za svakodnevnu medicinsku praksu objavljeni radovi o primjeni malih i portabilnih ultrazvučnih uređaja. Napredak tehnologije nudi nove, drukčije i bolje funkcije ultrazvučnih aparata. Učinili smo ispitivanje na 100 trudnica gestacijske dobi 16.–41. tjedan, koristeći portabilan ultrazvučni uređaj Siemens Acuson 10 i ocjenjivali točnost u osnovnim ultrazvučnim mjerenjima u usporedbi s većim uređajima koji se svakodnevno koriste. U našoj studiji portabilni ultrazvučni aparat bio je vrlo učinkovit u procjeni i mjerenju količine plodove vode, ocjeni sijela posteljice, namještaja djeteta i dokaza života ploda. Nešto lošiji rezultati u usporedbi s većim i skupljim uređajima dobiveni su u biometriji, bolji kod mjerenja koštanih struktura, biparijetalnog promjera (BPD) i duljine femura (FL), a lošiji u mjerenju opsega abdomena (AC). Zaključili smo da ovakav portabilan ultrazvuk dobre rezolucije može biti od koristi u ocjeni i gruboj orijentaciji, ali ne može se upotrijebiti kao oruđe za probir u prvom i drugom tromjesječju trudnoće. Takvi maleni i portabilni ultrazvučni aparati mogli bi imati važno mjesto u edukacijskoj primjeni ultrazvuka u kliničkoj praksi.In the last couple of years in the literature considering the usage of the small and portable ultrasound machines in everyday practice many data were published. Development of technology offers new, different and better functions¬ of ultrasound machines. We have performed the research on 100 pregnant women of the gestational age 16–41 weeks using the Simens Acuson 100 portable ultrasound machine. We wanted to see how accurate it is in basic biometrical measurements in comparison to the conventional bigger machines that are used daily. In our study portable ultrasound machine was very efficient in detecting the quantity of amniotic fluid, the position of placenta, position of the fetus and heart beating. In comparion to larger and more expensive machines worse results were observed in biometrical measurements, better in measurement of bony structures (femur length – FL and biparietal diameter – BPD) and not so good in measuring abdominal circumference (AC). We have to conclude that such a small machine can be very useful in basic ultrasound orientation but it is not enough useful as a tool in routine ultrasound screening. It could also have an important place as an educational tool in ultrasound skills

FETAL CARDIAC SCREENING IN PROTECTION FROM PERINATAL MORTALITY AND MORBIDITY – THE NEW, VERY IMPORTANT ROLE OF FETAL ECHOCARDIOGRAPHY IN OBSTETRICS AND PEDIATRIC CARDIOLOGY

Cilj: Osnovni je cilj ovog pregleda istaknuti vrijednost fetalnog kardiološkog probira (FKP) u zaštiti perinatalnog morbiditeta i mortaliteta uzevši u obzir suvremene dijagnostičke i terapijske mogućnosti i nova znanstvena otkrića. Istaknute su indikacije za FKP prema stupnju rizika, kako tablično tako i u opsežnoj raspravi koja uvažava timski rad i interpretira nalaz uzimanjem u obzir klasičnih smjernica stručnih društava (engl. Classical of recommendations - COR) i rasprave o bolesniku zasnovane na dokazima (engl. Level of evidence - LOE). Metode i rezultati izvedeni su proučavanjem smjernica stručnih društava za fetalnu pedijatrijsku kardiologiju: American Heart Association – AHA, Asociation of European Pediatric Cardiology – AEPC), International Society of Ultrasound in Obstetrics and Ginecology – ISOUG) te druge opsežne novije literature. Ističu se interesi fetalne kardiološke medicine uključujući dijagnozu prirođenih srčanih bolesti i aritmija, procjenu funkcije fetalnog kardiovaskularnog sustava (KVS) i raspoložive metode intrauterinog liječenja, kao i moguću potrebu neposredne ili vrlo rane intervencije nakon porođaja. Opsežnom raspravom uz brojne literaturne citate i tabličnim prikazom istaknute su referalne indikacije za FKP, čimbenici koji povećavaju rizik od prirođenih srčanih grješaka (PSG) i drugih srčanih bolesti (aritmije i kardiomiopatije) te populacijski pregled ekstrakardijalnih anomalija (EKA) koje imaju visok posljedični rizik za pridruženu srčanu bolest. Tekstu je uz tablice priloženo nekoliko važnih crteža ili ehokardiografskih prikaza koji na svoj način prožimaju zajedničke nalaze opstetričara i pedijatrijskog kardiologa-fetologa. Na kraju su istaknuta istraživanja koja dokazuju kako primjena i uvažavanje fetalnog kardiološkog probira pozitivno utječe na smanjenje perinatalnog morbiditeta i mortaliteta, posebno na primjeru složenih PSG. Zaključak: U posljednjih 20 godina fetalna kardiološka medicina je tako uznapredovala u dijagnostičkom i terapijskom smislu da značajno utječe na ukupni perinatalni morbiditet i mortalitet, osobito stoga što su PSG najčešće kongenitalne anomalije. Precizna kardiološka fetalna dijagnostika, sve brojniji terapijski pristupi u fetalno srce, kako medikamentni tako i intervencijski te dinamičan razvoj novih tehnologija doveli su fetalnu kardiološku medicinu do razine bez koje se više ne može zamisliti suvremena medicina u jednoj zemlji.Objective: The main objective of this review is to highlight the value of fetal cardiac screening in the protection from perinatal morbidity and mortality by respecting modern scientifi c, diagnostic and therapeutic possibilities. Indications for fetal cardiac screening according to the level of risk are highlighted, both tabularly and in an extensive discussion that takes into account teamwork and interprets fi ndings by taking into account Class of Recommendation (COR) and evidence-based patient discussions, Level of Evidence (LOE). Methods and results are derived from studying the guidelines of the American Heart Association (AHA), Association of European Pediatric Cardiology (AEPC), International Society of Ultrasound in Obstetrics and Gynecology (ISOUG), and other extensive recent literature. The aim is to highlight the interests of fetal cardiac medicine, including the diagnosis of congenital heart disease (CHD) and arrhythmias, assessment of fetal cardiovascular function and available methods of intrauterine treatment, as well as of immediate or early postnatal intervention. Extensive discussion with numerous literature citations and tabular presentation highlights the referral indications for fetal cardiac screening (FCS), factors that increase the risk of CHD and other heart diseases (arrhythmias and cardiomyopathies), and a population overview of extracardiac abnormalities associated with heart diseases. Along with the inevitable tables, the text is accompanied by several important drawings or echocardiographic representations that in their own way permeate the joint fi ndings of obstetricians and pediatric cardiologists-fetologists. Research confi rming that the application and consideration of fetal cardiac screening has a positive effect on reducing perinatal morbidity and mortality, especially in the case of complex heart defects, is presented at the end. Conclusion: In the last 20 years, fetal cardiac medicine has advanced so much in diagnostic and therapeutic terms that it signifi cantly affects overall perinatal morbidity and mortality, especially because CHDs are the most common congenital anomalies. Accurate cardiac fetal diagnosis, increasing therapeutic approaches to the fetal heart, both medical and interventional, and dynamic development of new technologies have brought fetal cardiac medicine to a level without which modern medicine in any country can no longer be imagined

FOUR DIMENSIONAL ULTRASOUND IN THE ASSESSMENT OF STRUCTURE AND MOVEMENTS OF THE FETAL FACE

SAŽETAK. Noviji napredak ultrazvučne dijagnostike, osobito uvođenje 3D i 4D ultrazvuka u praksu, omogućio je prenatalno ispitivanje normalne i poremećene strukture i pokreta fetalnog lica. Čini se da će ovo potpuno neispitano područje pružiti korisne nove informacije o funkciji fetalnog mozga jer se lice smatra ogledalom mozga. U ovom pregledu prikazani su rezultati dobiveni posljednjih godina, pretežno od zagrebačke skupine istraživača, ali i druge do sada objavljeni.Newer development in ultrasound diagnostics, especially applying three and four dimensional ultrasound techniques in the daily routine has made it possible to examine normal and abnormal structure and movement of the fetal face. It seems that this entirely uninvestigated field could provide useful new information about the function of the fetal brain, since the face is considered to be a mirror of the brain. In this review the results made in the last few years, mostly done by the Zagreb group of investigators, but also by the others published so far are presented

FOUR DIMENSIONAL ULTRASOUND IN THE ASSESSMENT OF STRUCTURE AND MOVEMENTS OF THE FETAL FACE

SAŽETAK. Noviji napredak ultrazvučne dijagnostike, osobito uvođenje 3D i 4D ultrazvuka u praksu, omogućio je prenatalno ispitivanje normalne i poremećene strukture i pokreta fetalnog lica. Čini se da će ovo potpuno neispitano područje pružiti korisne nove informacije o funkciji fetalnog mozga jer se lice smatra ogledalom mozga. U ovom pregledu prikazani su rezultati dobiveni posljednjih godina, pretežno od zagrebačke skupine istraživača, ali i druge do sada objavljeni.Newer development in ultrasound diagnostics, especially applying three and four dimensional ultrasound techniques in the daily routine has made it possible to examine normal and abnormal structure and movement of the fetal face. It seems that this entirely uninvestigated field could provide useful new information about the function of the fetal brain, since the face is considered to be a mirror of the brain. In this review the results made in the last few years, mostly done by the Zagreb group of investigators, but also by the others published so far are presented