Table 3.
Diagnoses made with SNP-array.
| ID | M/F | Clinical features | Suspected diagnosis | Prenatal indication | Diagnostic techniques used | Genetic diagnosis | Clinical diagnosis | TAT (days) | Effect of diagnosis |
|---|---|---|---|---|---|---|---|---|---|
| 502 | M | Esophagus atresia with TE-fistula, dysmorphic features | VACTERL- association, CHARGE syndrome, other syndromal cause | SNP*, T (CHARGE)# | 1p36.23(8437274_8580322)x1 de novo | Causative de novo deletion | 8 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations screening family members for individual clinical risk | |
| 508 | M | Dysmaturity, volvulus, ileal atresia, hypospadias, dysmorphic features | No specific syndromal suspicion | SNP*, OMOM | 7q34q36.3(141536855_159138663)x1, 20p13p12.3(0_5745900)x3 | Unbalanced translocation | 16 | Screening family members for genetic risk (offspring) | |
| 535 | F | Respiratory distress, hypertrophic and dilated right ventricle, antenatal closure of ductus arteriosus, dysmorphic features | No specific syndromal suspicion | US | SNP | 7q11.23(72722248_74185778)x1 de novo | Williams-Beuren syndrome | 13 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations |
| 555 | F | Atrial septal defect, ventricular septal defect, overriding aorta, dysmorphic features | Down syndrome | US | QF*, SNP*, T (PAH), T (BMPR2) | 21q11.2q22.3(14359894_48129895)x3 de novo | Down syndrome | 1 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations |
| 557 | F | Perinatal asphyxia, trigonocephaly, dysmorphic features | Mother carrier of balanced translocation chromosome 1 and 9 (46,XX,t(1,9)(q23.3;p.23)) | US | SNP | 1q32.3q44(212955231_249218992)x3, 9p24.3p23(46587_13806091)x1 mat | Unbalanced translocation | 6 | Reproductive information for parents, palliative care |
| 571 | F | Cardiac malformation, dysmorphic features | Turner syndrome with additional chromosomal or monogenetic aberration | US | SNP | (X)x1 | Turner syndrome | 16 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations |
| 576 | M | Central hypotonia, possible myoclonic seizures, cryptorchidism, dysmorphic features | Chromosomal or Monogenetic syndromes, i.e., Prader-Willi syndrome or PHG6, VPS13B | SNP | 15q11.2q13.1(23677677_28830871)x1 de novo | Prader-Willi syndrome | 22 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations, treatment, specific advice | |
| 577 | M | Morbus Hirschsprung, asymmetric crying face, ventricular septal defect, dysmorphic features | 22q11 deletion | QF*, SNP* | 22q11.21(18687210_21644673)x1 de novo | 22q11.2 deletion syndrome | 8 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations, treatment, specific advice | |
| 592 | F | Truncus arteriosus, dysmorphic features | 22q11 deletion | US | QF*, SNP* | 22q11.21(18876616_21644673)x1 de novo | 22q11.2 deletion syndrome | 3 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations, treatment, specific advice |
| 599 | M | Ventricular septal defect, dysmorphic features | Syndromal cause | US | SNP | 9q34.3(138683334_141213431)x1 de novo | Kleefstra syndrome | 16 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations |
| 605 | M | Macrosomia, anal atresia, cardiac malformation, bilateral hydronephrosis, dysmorphic features | VACTERL-association, cat-eye syndrome, chromosomal aberration | SNP*, T (HT) | 20p11.22p11.21(22054764_24364361)x1 de novo | Causative de novo deletion | 11 | Prognosis, follow-up advice according to published guidelines and/or recommendations, screening family members for genetic risk (offspring) | |
| 607 | F | Cardiac malformation, dysmorphic features | Kleefstra syndrome, Turner syndrome | US | SNP | Yq12(154,934,000-155,270,560)x1, 9q34.3(138,083,055-141,213,431)x1 pat | Kleefstra syndrome | 12 | Prognosis, follow-up advice according to published guidelines and/or recommendations |
| 635 | M | Kidney malformation, abnormal gall bladder, haemangioma of the liver, splenic cysts, dysmorphic features | Polycystic kidney disease, ciliopathy, Pallister-Killian syndrome | US | SNP*, T (CP)& | 22q11.21(18886915_21463730)x3 de novo | Atypical 22q11.2 duplication syndrome | 26 | Prognosis, follow-up advice according to published guidelines and/or recommendations |
| 641 | F | Polycystic dysplastic right kidney, cardiac malformation | 22q11.2 deletion syndrome, Kleefstra syndrome, ciliopathy, Kabuki syndrome | US | SNP*, OMOM | 16p12.2(21827582_22425152)x1 de novo | 16p12.1 deletion syndrome | 12 | Reproductive information for parents, prognosis, follow-up advice according to published guidelines and/or recommendations, screening family members for individual clinical risk |
TAT, Turnaround time; PPHN, Persistent pulmonary hypertension of the newborn; US, abnormal ultrasound; QF, quantitative fluorescent polymerase chain reaction; SNP, single nucleotide polymorphism array; OMOM, OMIM mendelian targeted sequencing; PB, phenotype-based targeted sequencing; CHARGE, with specific panel: CHARGE-syndrome; CCHS, congenital central hypoventilation syndrome; PAH, pulmonary arterial hypertension; BMPR2, bone morphogenetic protein receptor type II; HT, heterotaxia; CP, ciliopathy;
(*)
, diagnosed using;
(#)
, technique carried out in University Medical Center Nijmegen;
(&)
, technique carried out in University Medical Center Utrecht; (mat), maternal; (pat), paternal.