Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero-octameric proteins involved in retrograde trafficking within the Golgi. Seven of its eight subunits have a causal role in CDG. To date, only three cases of COG8-CDG have been published but none in the antenatal period. We present the first case of antenatally diagnosed COG8-CDG with facial dysmorphism and additional features such as Dandy-Walker malformation and arthrogryposis multiplex congenita, thus expanding the phenotype of this rare disorder. Trio whole exome sequencing revealed a novel homozygous variant in COG8, which creates a new splice site in exon 5 and protein truncation after 12 amino acids downstream to the newly generated splice site. As the mutations of the previous three patients were also identified in exon 5, it is likely to be a potential mutational hotspot in COG8. An association between antenatally increased nuchal translucency and COG8-CDG is also established, which would alert clinicians to its diagnosis early in gestation.It remains to be seen if this observation can be extended to other COG-CDGs. K E Y W O R D Santenatal presentation, arthrogryposis multiplex congenita, COG8-CDG, Dandy-Walker malformation, increased NT, mutational hotspot

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This article reports two families with children having acrocallosal syndrome, an autosomal recessive disorder characterized by agenesis of corpus callosum, facial dysmorphism and polydactyly along with psychomotor retardation. Both families sought genetic counseling in subsequent pregnancies. Although the gene for the disorder is not yet identified, prenatal diagnosis was attempted by ultrasound studies. In both families, an affected fetus was diagnosed in the presence of postaxial polydactyly of hands and absence of corpus callosum. It is emphasized that pediatricians should make precise diagnosis in cases of dysmorphism and mental retardation, as this enable prenatal diagnosis in future pregnancies.

Amniocentesis is the most common invasive prenatal diagnostic procedure worldwide. It is a technique of withdrawing amniotic fluid from the uterine cavity using a needle, via a transabdominal approach, under continuous ultrasound guidance, in order to obtain a sample of fetal exfoliated cells, transudates, urine, or secretions. The amniotic fluid contains amniocytes and fetal epithelial cells. Amniotic fluid can be tested directly or grown in culture for various chromosomal, bio-chemical, molecular, and microbial studies. Amniocentesis for genetic testing is generally performed between the gestational age of 16 and 20 weeks. Diagnostic amniocentesis is commonly used for prenatal diagnosis of chromosomal abnormalities, single gene disorders, fetal infection, and intra-amniotic inflammation. Common indications cited are advanced maternal age, positive maternal screening results for aneuploidy, structural abnormality on ultrasound, and inconclusive or positive noninvasive prenatal testing. Pre-procedure counseling and screening ultrasound should always be done before subjecting a woman to amniocentesis. Complete procedure is performed under ultrasound guidance with continuous visualization of the needle under proper aseptic conditions. Post-procedure follow-up includes documentation of fetal viability immediately after the procedure by ultrasound studies, anti-D immunoglobulin (300 g) to be administered to RhD negative women, and house rest for 24 h.