Prenatally Diagnosed Single Umbilical Artery (SUA) - Retrospective Analysis of 1169 Fetuses.

PURPOSE: The incidence of a fetal single umbilical artery (SUA) is about 0.5 % and has been associated with an increased risk of congenital malformations, fetal aneuploidy and intrauterine growth restriction (IUGR). MATERIALS AND METHODS: A retrospective analysis of 1169 women with singleton pregnancies diagnosed with fetal SUA between 1997 and 2014 in a specialized practice for prenatal diagnostics has been performed. Data was obtained on maternal and fetal findings as well as pregnancy outcome. RESULTS: 989 (84.6 %) fetuses showed an isolated SUA (iSUA) while 180 (15.4 %) presented with SUA and additional structural and/or chromosomal abnormalities. Structural malformations were distributed as follows: 9.0 % cardiovascular, 3.5 % urogenital, 2.9 % musculoskeletal, 3.0 % gastrointestinal and 2.1 % cerebral. 2.1 % of the fetuses had chromosomal aberrations. 50.8 % (49.2 %) of the fetuses were female (male) and right vs. left SUA was found in 64.2 % (35.8 %) of the cases. Fetuses with SUA and additional abnormalities showed lower rates of live births (85.0 % vs. 98.5 %, p < 0.001), a lower median birth weight (2825 g vs. 3220 g, p < 0.001), higher rates of preterm delivery before week 34 + 0 (13.7 % vs. 3.8 %, p < 0.001) and weighed less than the 5th growth percentile in 21.6 % vs. 9.3 % (p < 0.001) of the fetuses with iSUA. In 5.1 % (60) of the children, chromosomal or structural abnormalities were detected post-partum. CONCLUSION: Once fetal SUA is diagnosed, intense sonoanatomy of the fetus is required and, if associated malformations are found, genetic testing must be offered. In iSUA intermittent biometry is recommended for the early detection of IUGR but additional genetic testing is not necessarily recommended.

The Incidence of Chromosomal Aberrations in Prenatally Diagnosed Isolated Agenesis of the Corpus Callosum.

PURPOSE: To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. MATERIALS & METHODS: This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. RESULTS: Complete ACC was diagnosed in 343 cases. Of them, 143 (41.6 %) were isolated, with 16 fetuses showing additional minor findings. In 76.2 % (109/143) karyotyping was performed. Additional array CGH analysis was performed in 7.7 % (11/143). Chromosomal aberrations were found in 4.6 % (5/109) overall, in 3.1 % (3/98) of those without any additional sonographic findings (all represented mosaic trisomy 8) and in 18.2 % (2/11) of those with minor abnormalities. The prevalence of pathogenic submicroscopic copy number variant (CNV) was 9 % (1/11). CONCLUSION: Fetal karyotyping is recommended in ACC, as trisomy 8 mosaicism should be considered despite otherwise unremarkable ultrasound. The role of novel techniques such as array CGH and its implication has to be explored in prospective studies.