PRENATALNA DIJAGNOZA TRIPLOIDIJE I TURNEROVA SINDROMA ULTRAZVUKOM

Triploidy means that there is a complete extra set of chromosomes in every cell of affected fetus. Instead of having 46 chromosomes, one set of 23 chromosomes from each parent, an individual with triploidy has 69 chromosomes. Triploidy can be detected prenatally by cytogenetic analysis of fetal cells obtained by chorionic villous sampling (CVS) or by amniocentesis. Postnatal diagnosis is based on phenotype of the proband with cytogenetic confirmation by karyotyping. Triploidy is lethal, most fetuses are miscarried, while some die within a few hours or days after birth. Turner syndrome is a form of primary ovarian insufficiency, called also gonadal disgenesis. Both, triploidy and Turner syndrome should be taken into consideration if sonography reveals minor or major abnormalities of the fetus in the first or in the second trimester of pregnancy. Active screening of these conditions is not justified in the general population. In rare occasions, both conditions can be diagnosed prenatally by ultrasound. The aim of this paper is to underline the importance of accurate prenatal ultrasonic diagnosis in everyday professional work, even though the conditions which are searched for are rare and exotic.Triploidija označava postojanje još jednog kompleta kromosoma u svakoj stanici oboljeloga ploda. Umjesto 46 kromosoma odnosno jednog kompleta po 23 kromosoma od svakog roditelja, jedinka s triploidijom ima 69 kromosoma. Triploidija se može otkriti prenatalno citogenetskom analizom stanica ploda dobivenih biopsijom korionskih resica ili amniocentezom. Postnatalna dijagnoza se zasniva na fenotipu probanda uz citogenetsku potvrdu određivanjem kariotipa. Triploidija je letalna, većina se plodova spontano pobaci, dok ostali umiru tijekom prvih nekoliko sati ili dana po rođenju. Turnerov sindrom je oblik primarne insuficijencije jajnika koji se naziva i gonadalna disgeneza. Na postojanje bilo triploidije bilo Turnerova sindroma valja posumnjati ako se ultrazvukom u ploda otkriju male ili velike malformacije tijekom prvoga ili drugog tromjesečja trudnoće. Aktivni probir ovih stanja nije opravdan u općoj populaciji. Rijetko se i jedna i druga bolest mogu dijagnosticirati prenatalno ultrazvukom. Cilj ovoga članka je ukazati na važnost pravilne ¬prenatalne ultrazvučne dijagnoze u svakodnevnom radu čak i u slučajevima kad su bolesti za kojima se traga rijetke i egzotične

Risk of vertical transmission of chronic viral infections after invasive prenatal procedures

Objectives: Invasive prenatal procedures including amniocentesis, chorionic villus sampling (CVS) can be prenatally indicated for diagnostic purposes. Chronic viral infections with Human Immunodeficiency Virus (HIV), hepatitis C virus (HCV), hepatitis B virus (HBV) are not uncommon in women of reproductive age. The aim of this narrative literature review is to provide guidance on the best clinical practice in antenatal invasive testing and fetal surveillance in pregnancies with HIV, HCV, HBV and treponema pallidum infected women. Material and methods: A review of the literature was conducted in the database of PubMed to select full-length articles published in peer-reviewed journals between 1990 and 2020. The keywords along with respective combinations included in the search strategy were invasive testing, prenatal diagnosis, amniocentesis, chorionic villus sampling, cordocentesis, fetoscopy, chronic viral infections, hepatitis B, hepatitis C, HIV, treponema pallidum, syphilis, vertical transmission, MTCT. Results: For patients with hepatitis B infection, it is important to assess the HBeAg status and HBV DNA levels and for those patients with high viral load, antiviral therapy (Tenofovir) for a few weeks may be needed to reduce the viral load prior to the invasive procedure. In women positive for HCV, the viral load and HIV status should be assessed to establish the risk of vertical transmission; while for patients with HIV, highly active antiretroviral therapy administration and low viral load are predictive for reduced vertical transmission even after performing an invasive procedure. In all cases invasive procedure should be replaced by non-invasive prenatal testing if this is a feasible alternative and when invasive testing is indeed required, transplacental passage should be avoided.

Placental Volume at 11-13 Weeks' Gestation in the Prediction of Birth Weight Percentile

&lt;i&gt;Objective:&lt;/i&gt; To determine the value of placental volume measured by 3D ultrasound at 11–13 weeks’ gestation in combination with maternal characteristics and serum pregnancy-associated plasma protein-A (PAPP-A) in the prediction of small and large for gestational age (SGA and LGA) neonates. &lt;i&gt;Methods:&lt;/i&gt; Maternal serum PAPP-A and placental volume were measured at 11–13 weeks in 3,104 singleton pregnancies. Regression analysis was used to examine the contribution of maternal characteristics, placental volume and PAPP-A in the prediction of SGA and LGA neonates. &lt;i&gt;Results:&lt;/i&gt; There was a significant association between placental volume and PAPP-A (r = 0.268, p &lt; 0.0001). Median placental volume and PAPP-A, expressed as multiples of the median (MoM) in appropriate for gestational age (AGA) neonates, were reduced in the SGA group (placental volume 0.88 MoM, vs. 1.00 MoM in AGA, p &lt; 0.0001; PAPP-A 0.92 MoM vs. 1.00 MoM in AGA, p = 0.019) and increased in the LGA group (placental volume 1.09 MoM vs. 1.00 MoM in AGA, p &lt; 0.0001; PAPP-A 1.15 MoM vs. 1.00 MoM in AGA, p = 0.015). Maternal characteristics with either placental volume or PAPP-A detected about 30% of the SGA or LGA neonates, at a false positive rate of 10%. &lt;i&gt;Conclusion:&lt;/i&gt; Measurement of placental volume and serum PAPP-A can improve the prediction of SGA or LGA neonates provided by maternal characteristics alone.</jats:p

Hyperglycosylated-hCG: Its Role in Trophoblast Invasion and Intrauterine Growth Restriction

Human chorionic gonadotropin (hCG) is produced by the placenta and its roles have been studied for over a century, being the first known pregnancy-related protein. Although its main role is to stimulate the production of progesterone by corpus luteal cells, hCG does not represent just one biologically active molecule, but a group of at least five variants, produced by different cells and each with different functions. The hyperglycosylated variant of hCG (H-hCG) plays a key role in trophoblast invasion, placental development and fetal growth. During trophoblast invasion, H-hCG promotes extravillous cytotrophoblast cells to infiltrate the decidua, and also to colonize and remodel the spiral arteries in to low resistance, larger-diameter vessels. As fetal growth is heavily reliant on nutrient availability, impaired trophoblast invasion and remodeling of the uterine arteries, leads to a defective perfusion of the placenta and fetal growth restriction. Understanding the function of H-hCG in the evolution of the placenta might unveil new ways to manage and treat fetal growth restriction

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case

Treatment of Fetal Arrhythmias

Fetal arrhythmias are mostly benign and transient. However, some of them are associated with structural defects or can cause heart failure, fetal hydrops, and can lead to intrauterine death. The analysis of fetal heart rhythm is based on ultrasound (M-mode and Doppler echocardiography). Irregular rhythm due to atrial ectopic beats is the most common type of fetal arrhythmia and is generally benign. Tachyarrhythmias are diagnosed when the fetal heart rate is persistently above 180 beats per minute (bpm). The most common fetal tachyarrhythmias are paroxysmal supraventricular tachycardia and atrial flutter. Most fetal tachycardias can be terminated or controlled by transplacental or direct administration of anti-arrhythmic drugs. Fetal bradycardia is diagnosed when the fetal heart rate is slower than 110 bpm. Persistent bradycardia outside labor or in the absence of placental pathology is mostly due to atrioventricular (AV) block. Approximately half of fetal heart blocks are in cases with structural heart defects, and AV block in cases with structurally normal heart is often caused by maternal anti-Ro/SSA antibodies. The efficacy of prenatal treatment for fetal AV block is limited. Our review aims to provide a practical guide for the diagnosis and management of common fetal arrythmias, from the joint perspective of the fetal medicine specialist and the cardiologist