Research Article

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Table 2

Characteristics of prenatal samples with an abnormal karyotype and a normal CMA.

CasesCharacteristicsKaryotype resultsCMA results

1Low number of noninvasive chromosomes45, X, [73]/46, X, psu dic (Y) (q12) [10]46, XY
2Noninvasive DNA suggested sex chromosome anomalies (47, XXY)47, XXY [2]/46, XY[48]46, XY
3Noninvasive suggested X chromosome abnormalities45, X [2]/46, XX[48]46, XX
4Fetal intrauterine growth restriction47, XX, +20 [3]/46, XX[97]46, XX
5High risk of trisomy 2145, X [8]/46, XX[42]46, XX
6Low F-βHCG (MOM)47, XYY [5]/46, XY[45]46, XX
7High number of noninvasive chromosomes46, XY, t(1; 9) (p31; q31)dn46, XY
8Bilateral nasal bone dysplasia in fetus46, XY, t(4; 8) (q21; q24.1)dn46, XY
9High F-βHCG (MOM), risk value of trisomy 21 was 1/23746, XY, t(12; 13) (p11.23; q12)dn46, XY
10NT: 2.82 mm, reversed a-wave in the fetal ductus venosus46, XX, ins(2; 16) (p13; q12q24), t(2; 5) (q23; p15.1), t(2; 8) (p13; p22)dn46, XX
11Risk value of trisomy 21 was 1/25646, XY, t(2; 10; 14) (q23; q22; q32)dn46, XY
12Nasal bone was invisible, right choroid plexus cyst46, XX, t(4; 15) (p14; q11.1)dn46, XX