PMID- 37576786
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230815
IS  - 1311-0160 (Print)
IS  - 2199-5761 (Electronic)
IS  - 1311-0160 (Linking)
VI  - 26
IP  - 1
DP  - 2023 Jul
TI  - Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis 
      (45,X/46,Xy).
PG  - 57-62
LID - 10.2478/bjmg-2023-0007 [doi]
AB  - Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 
      13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the 
      testing is also used for sex chromosomal aneuploidies, it is not as efficient as 
      it is for common trisomies. In this particular study, we present a case for whom 
      the NIPT diagnosis was originally 45,X and who was diagnosed with mixed gonadal 
      dysgenesis 45,X/46,XY after birth. A 38-year-old [G3P3] pregnant woman underwent 
      NIPT at 15 weeks' gestation and was found to be at probable risk for 45,X. 
      Because cordocentesis is an invasive procedure, the pregnant woman did not want 
      to undergo cordocentesis. Consequently, postnatal cytogenetic analysis was 
      performed and the baby's karyotype was shown to be 45,X/46,X,+mar?. No numerical 
      and/or structural anomalies were observed in the karyotypes of parents and 
      siblings. Based on the microarray analysis of the analyzed sample, one copy of 
      the X chromosome was detected in all cells and the presence of one copy of the Y 
      chromosome was detected in a ~40% mosaic state: arr(X) x1,(Y)x1[0.4]. SRY gene 
      duplication on Y chromosome was confirmed by fluorescence in situ hybridization 
      (FISH) and microarray analysis. The patient's clinical examination showed 
      ambiguous genitalia (clitoromegaly) and dysmorphic facial features. The baby 
      underwent surgery for aortic coarctation. The results were consistent with a 
      genetic diagnosis of 45,X/46,XY mixed gonadal dysgenesis. Genetic counselling was 
      offered to the family. In conclusion, NIPT still has potential limitations in 
      correctly identifying sex chromosomes and mosaicism that may mislead clinicians 
      and families.
CI  - (c) 2023 H. Cobanogullari et al., published by Sciendo.
FAU - Cobanogullari, H
AU  - Cobanogullari H
AD  - Near East University, Institute of Graduate Studies, Department of Molecular 
      Medicine, Nicosia, 99138, Cyprus.
FAU - Akcan, N
AU  - Akcan N
AD  - Near East University, Faculty of Medicine, Department of Pediatrics, Nicosia, 
      99138, Cyprus.
FAU - Ergoren, M C
AU  - Ergoren MC
AD  - Near East University, Institute of Graduate Studies, Department of Molecular 
      Medicine, Nicosia, 99138, Cyprus.
AD  - Near East University Hospital, Laboratory of Medical Genetics Diagnosis, Nicosia, 
      99138, Cyprus.
AD  - Near East University, Faculty of Medicine, Department of Medical Genetics, 
      Nicosia, 99138, Cyprus.
LA  - eng
PT  - Case Reports
DEP - 20230731
PL  - Poland
TA  - Balkan J Med Genet
JT  - Balkan journal of medical genetics : BJMG
JID - 9806959
PMC - PMC10413989
OTO - NOTNLM
OT  - Mixed gonadal dysgenesis
OT  - Turner syndrome
OT  - mosaicism
OT  - noninvasive prenetal testing
OT  - prenatal diagnosis
EDAT- 2023/08/14 06:42
MHDA- 2023/08/14 06:43
PMCR- 2023/07/31
CRDT- 2023/08/14 04:47
PHST- 2023/08/14 06:43 [medline]
PHST- 2023/08/14 06:42 [pubmed]
PHST- 2023/08/14 04:47 [entrez]
PHST- 2023/07/31 00:00 [pmc-release]
AID - bjmg-2023-0007 [pii]
AID - 10.2478/bjmg-2023-0007 [doi]
PST - epublish
SO  - Balkan J Med Genet. 2023 Jul 31;26(1):57-62. doi: 10.2478/bjmg-2023-0007. 
      eCollection 2023 Jul.