Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)

22 February 2022: Articles

Diagnostic / therapeutic accidents, Rare disease

Marija Jurčenko ^B* , Madara Auzenbaha ^A , Ieva Mičule ^D , Ieva Grīnfelde ^A , Aigars Dzalbs ^D , Ieva Mālniece ^A

DOI: 10.12659/AJCR.935370

Am J Case Rep 2022; 23:e935370

Table 1. Index case’s obstetric medical history.

Index case pregnancies	Prenatal testing	Postnatal testing	Outcome
IV-1	Not known	Clinically diagnosed congenital heart defect	IV-1 died 24 h after birth
IV-2	Second trimester biochemical screening: elevated alpha-fetoprotein (6.48 MoM), increased risk of neural tube defect (>1: 50)Fetus ultrasonography screening at 21 week of gestation: dolichocephaly, enlarged third ventricle, initial oligohydramnios and suspected corpus callosum hypoplasia	G-banded karyotype with subtelomeric regions: 46, XX, deletion 1p36–p36	IV-2 has 1p36 deletion syndrome
IV-3	N/A	N/A	IV-3 – spontaneous abortion in the first trimester
IV-4	N/A	N/A	IV-4 – spontaneous abortion in the first trimester
IV-5	First trimester biochemical screening: no abnormalityFirst trimester ultrasound screening: no fetal anomaliesAmniocentesis at 15+6 weeks of gestation and karyotyping with FISH of subtelomeric regions and CMA for the fetus: duplication 1p36.33–1p36.31 (5.4 Mb) and terminal deletion 6q27 (1.2Mb)	N/A	IV-5 – pregnancy terminated at 20+5 weeks of gestation due to the fetus having 1p36.33 duplication syndrome