Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome with Increased Nuchal Translucency and Negative Serum Integrated Screening for Trisomy 21

Abstract

The Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with a hemizygous deletion of chromosome 4p16.3. It is characterized by pre-and postnatal growth restriction, microcephaly, profound learning disability and seizure disorder, a 'Greek helmet' facies, and closure defects (cleft lip or palate, coloboma of the eye and cardiac septal defects). Prenatal diagnosis of the WHS (deletion 4p syndrome) has been established after karyotyping mainly for intrauterine growth restriction often with hypospadias, facial clefting and diaphragmatic hernia. Here we report the prenatal diagnosis of WHS at 19 weeks with increased nuchal translucency at 12 weeks, but a favourable integrated screening test due to low levels of B-human chorionic gonadotrophin (hCG). Low levels of hCG have been previously reported in Wolf-Hirschhorn syndrome.

Prenatal Screening of Cytogenetic Anomalies -A Ten Year Retrospective Study on 1510 Cases

“…These data are mostly similar to other relevant publications, while in some cases they are significantly different (Table IV). Our study revealed that the majority of the karyotype abnormalities were numerical (30/48; 62,5%), which is consistent with the research findings obtained from Europe [25]. The most common autosomal chromosome aneuploidy detected was trisomy 21 (11.3/1000; 35.41%), followed by trisomy 18 (2.6/1000;8.3%).…”

“…A retrospective analysis of 2 883 890 perinatal infants, referred for amniocentesis, showed that the most commonly detected chromosome aneuploidy was trisomy 21 (67/1000; 59.6%), followed by trisomies 18 (11/1000; 10%) and 13 (2/1000; 1.9%) [26]. In a review, [25] also reported the majority of chromosome aberrations found in fetuses are trisomies, mostly of the chromosomes 13, 18 and 21. We also noticed one 47,XY,+20/46,XY mosaic case (2.1%).…”

An insight into the placental morphology in a case of Edwards syndrome

“…4 Edwards syndrome (trisomy 18) occurs in 1/5000 births but the incidence is higher in the prenatal period with a high percentage of fetal losses. 5 It had been studied that about 59% of the time trisomy 18 results from maternal meiosis II error. 6 It is characterized by failure to thrive, development retardation, abnormally shaped skull, low set, malformed ears, etc.…”