PRENATAL SONOGRAPHIC FEATURES OF FETUSES IN TRISOMY 13 PREGNANCIES (III)

[[abstract]]Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic Features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and polyclactyly. [Taiwan J Obstet Gynecol 2009;48(4):342-349

LIMB-BODY WALL COMPLEX IN ONE FETUS OF A DIZYGOTIC TWIN PREGNANCY CONCEIVED BY EGG DONATION, IN VITRO FERTILIZATION AND EMBRYO TRANSFER: PRENATAL DIAGNOSIS AND LITERATURERE VIEW

[[abstract]][Chen, Chih-Ping; Huang, Ming-Chao] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan; [Chen, Chih-Ping; Chern, Schu-Rern; Wang, Wayseen] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan; [Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Chih-Ping; Tsai, Fuu-Jen] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan; [Chen, Chih-Ping] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan; [Chen, Chih-Ping] Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan; [Lee, Maw-Shuan] Chung Shan Med Univ, Inst Med, Taichung, Taiwan; [Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan; [Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan; [Wang, Wayseen] Tatung Univ, Dept Bioengn, Taipei 104, Taiwa

TERMINAL 2Q DELETION AND DISTAL 15Q DUPLICATION: PRENATAL DIAGNOSIS BY ARRAY COMPARATIVE GENOMIC HYBRIDIZATION USING UNCULTURED AMNIOCYTES

[[abstract]][Chen, Chih-Ping; Lin, Hung-Hung; Lee, Meng-Shan] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan; [Chen, Chih-Ping; Chern, Schu-Rern; Wang, Wayseen] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan; [Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Chih-Ping; Tsai, Fuu-Jen] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan; [Chen, Chih-Ping] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan; [Chen, Chih-Ping] Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan; [Su, Yi-Ning] Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan; [Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan; [Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan; [Hwang, Jonathan Kwei] Loyola Marymount Univ, Los Angeles, CA 90045 USA; [Wang, Wayseen] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan; [Chen, Teresa Hsiao-Tien] Tatung Univ, Taipei Amer Sch, Taipei 104, Taiwa

Prenatal 3-dimensional sonographic and MRI findings in omphalocele-exstrophy-imperforate anus-spinal defects complex

[[abstract]]Abstract: We describe the second-trimester 3D sonographic and MRI findings of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex. We suggest that fetal 3-dimensional sonography with tomographic ultrasound imaging and MRI are useful adjuncts to conventional 2-dimensional sonography in the prenatal diagnosis of OEIS complex. (C) 2007 Wiley Periodicals, Inc

UNBALANCED AND BALANCED ACROCENTRIC REARRANGEMENTS INVOLVING CHROMOSOMES OTHER THAN CHROMOSOME 21 AT AMNIOCENTESIS

[[abstract]]Objective: To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. Materials and Methods: From January 1987 to September 2009, 31,194 amniocenteses were performed at Mackay Memorial Hospital, Taipei, Taiwan. Two cases with unbalanced acrocentric rearrangements involving chromosomes other than chromosome 21 from two families, and 24 cases with balanced acrocentric rearrangements involving chromosomes other than chromosome 21 from 21 families were diagnosed and investigated. Results: We detected i(13q13q), +13 (one case), rob(13q14q), +13 (one case), rob(13q14q) (16 cases), rob(14q15q) (five cases), rob(13q15q) (one case), rob(15q22q) (one case), and mosaic rob(14q22q) (one case). Of the 25 cases that underwent parental cytogenetic investigation, six arose de novo and 19 were inherited (10 maternal and nine paternal). The 16 families with an inherited Robertsonian translocation included rob(13q14q) (11 families), rob(14q15q) (four families), and rob(15q22q) (one family). Of these 16 families, only two had known parental carrier status prior to the First amniocentesis, while the other 14 were aware of a parental carrier status only after prenatal diagnosis of a fetus with a heterologous Robertsonian translocation. The 18 fetuses with balanced heterologous Robertsonian translocations inherited them from six maternal carriers of rob(13q14q), four paternal carriers of rob(13q14q), four paternal carriers of rob(14q15q), and one maternal carrier of rob(15q22q). Neither UPD14 nor UPD15 was detected in any of the 16 cases tested for UPD. Conclusion: Concerning acrocentric rearrangements involving chromosomes other than chromosome 21, we found a frequency of 0.0064% for unbalanced rearrangements and 0.0769% for balanced rearrangements at amniocentesis in this study. rob(13q14q) was the most common and rob(14q15q) the second most common rearrangement. Of the families with an inherited translocation, 87.5% were aware of parental carrier status only after prenatal diagnosis of a fetus with a translocation by amniocentesis. [Taiwan J Obstet Gynecol 2009;48(4): 389-399

A 12 Mb deletion of 6p24.1 -> pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

[[abstract]]We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12 Mb deletion of 6p24.1 -> pter

PRENATAL MAGNETIC RESONANCE IMAGING, ULTRASOUND IMAGING FINDINGS AND GENETIC ANALYSIS OF CONCOMITANT RHABDOMYOMAS AND CEREBRAL TUBEROUS SCLEROSIS

[[abstract]]Objective: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of mos45,X/46,X,+mar. In addition, the cases with prenatally detected mos45,X/46,X,del(Y)(q11.2) and normal male external genitalia are reviewed. Case Report: A 30-year-old, primigravid woman was referred for amniocentesis because of an abnormal Down syndrome screening result at 20 weeks' gestation. Cytogenetic analysis showed mos45,X/46,X,+mar without a normal Y chromosome. Prenatal ultrasound detected symmetric intrauterine growth restriction and normal male external genitalia. After termination of the pregnancy, a phenotypically normal male fetus was delivered smoothly without apparent structural defects. Based on conventional G-banded analysis, the marker chromosome appeared as a Y chromosome that originated with a deleted Yq, designated as del(Y)(q11.2). Conclusion: Based on a literature review, the addition of fluorescence in situ hybridization and molecular analysis to the conventional cytogenetic techniques can provide more accurate identification of a Y chromosome aberration in the prenatal detection of mos45,X/46,X,+mar, thus allowing more appropriate genetic counseling for the family. [Taiwan J Obstet Gynecol 2009;48(3):292-295