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EP04.28: Sex discordance following non‐invasive prenatal screening
Author(s) -
SylvesterArmstrong K.R.,
Rasmussen S.,
Shoraka M.,
AbuRustum R.
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.21183
Subject(s) - medicine , gynecology , amniocentesis , obstetrics , gestation , gestational age , prenatal diagnosis , gonadoblastoma , karyotype , fetus , pregnancy , chromosome , genetics , biology , gene
REFERENCES Permission to review medical records was approved by the Institutional Review Board at the University of Florida as an expedited review under a waiver of informed consent. Cases were identified using ICD-9 (January 1, 2013 – September 30, 2015; ICD-9-CM 752.2 “Indeterminate sex and pseudohermaphroditism”) and ICD-10 codes (October 1, 20158 – January 30, 2019; ICD-10-CM Q56.4, “Indeterminate sex, unspecified”) at UF Health. In addition, the departmental genetic counseling database and cytogenetics laboratory logbooks were reviewed to identify additional cases. When discordant results were suspected, the patients’ records were reviewed for maternal age, mode of conception, NIPS laboratory utilized, presence of multiple gestation, sonographic findings, subsequent prenatal or postnatal confirmatory test results, and pregnancy as well as neonatal outcomes. Data were collated upon review of all medical records describing NIPS results, prenatal care, postnatal care and clinical evaluation of mother and infant. These cases demonstrate the possible limitations of correctly identifying sex chromosomes via NIPS. Even with single nucleotide polymorphism based NIPS, positive predictive value for detection of sex chromosome abnormalities is around 50%. Invasive diagnostic procedure or postnatal genetics should be performed especially in case of sex chromosome discordance where NIPS may have subpar performance.