ABSTRACT
OBJECTIVES: To determine the frequency of clinically significant chromosomal abnormalities identified by chromosomal microarray in pregnancy losses at any gestational age and to compare microarray performance with that of traditional cytogenetic analysis when testing pregnancy losses. METHODS: Among 535 fetal demise specimens of any gestational age, clinical microarray-based comparative genomic hybridization (aCGH) was performed successfully on 515, and a subset of 107 specimens underwent additional single nucleotide polymorphism (SNP) analysis. RESULTS: Overall, clinically significant abnormalities were identified in 12.8% (64/499) of specimens referred with normal or unknown karyotypes. Detection rates were significantly higher with earlier gestational age. In the subset with normal karyotype, clinically significant abnormalities were identified in 6.9% (20/288). This detection rate did not vary significantly with gestational age, suggesting that, unlike aneuploidy, the contribution of submicroscopic chromosomal abnormalities to fetal demise does not vary with gestational age. In the 107 specimens that underwent aCGH and SNP analysis, seven cases (6.5%) had abnormalities of potential clinical significance detected by the SNP component, including female triploidy. aCGH failed to yield fetal results in 8.3%, which is an improvement over traditional cytogenetic analysis of fetal demise specimens. CONCLUSIONS: Both the provision of results in cases in which karyotype fails and the detection of abnormalities in the presence of a normal karyotype demonstrate the increased diagnostic utility of microarray in pregnancy loss. Thus, chromosomal microarray testing is a preferable, robust method of analyzing cases of pregnancy loss to better delineate possible genetic etiologies, regardless of gestational age.
Subject(s)
Abortion, Spontaneous/genetics , Oligonucleotide Array Sequence Analysis/methods , Stillbirth/genetics , Aneuploidy , Chromosome Aberrations , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Comparative Genomic Hybridization/methods , Cytogenetic Analysis/methods , Female , Fetus , Humans , Karyotyping/methods , Male , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Diagnosis/methods , TriploidyABSTRACT
With increased numbers of women in the workplace, corporations are recognizing the need for maternal-child wellness programming. Prenatal risk assessment and screenings with follow up educational programs can reduce infant mortality and morbidity, thereby reducing dollars spent by industry for health care of women and children. Occupational health nurses can serve as change agents in implementing prenatal, postnatal, and family oriented wellness programs in the workplace.
