Fetal Gender Reporting in D&C Specimens
Fetal gender is not automatically determined or reported in routine D&C pathology analysis for miscarriage evaluation—it requires a separate, specific genetic test (karyotyping or chromosomal analysis) that must be explicitly ordered. 1, 2, 3
Standard D&C Pathology Analysis
- Routine pathology examination of D&C specimens focuses on confirming products of conception (presence of chorionic villi) and excluding other pathology like molar pregnancy or retained tissue. 4
- Gender determination is NOT part of standard histopathologic examination because microscopic tissue analysis cannot reliably identify fetal sex. 3
- The pathologist examines tissue architecture and cellular characteristics, not chromosomal composition, unless specifically requested. 4
When Gender IS Determined
Gender identification requires one of these specific genetic tests to be ordered:
Chromosomal Karyotyping
- Traditional cytogenetic analysis that can identify both chromosomal abnormalities AND determine sex (XX vs XY). 1, 5, 3
- Successfully identifies gender in cases where cell culture succeeds (approximately 60-80% of specimens). 3
- This test must be specifically requested—it is not automatic with D&C. 5, 3
Molecular Genetic Testing
- FISH (fluorescence in-situ hybridization) can identify X and Y chromosomes directly without cell culture. 1
- PCR-based microsatellite genotyping can determine sex even with culture failure or maternal cell contamination. 3
- Array comparative genomic hybridization (arrayCGH) provides chromosomal analysis including sex determination. 3
Clinical Context for Ordering Genetic Testing
Genetic analysis is typically ordered in these situations:
- Recurrent miscarriage (2-3 or more consecutive losses), where chromosomal abnormalities are found in 39-70% of cases. 1, 2, 5
- When determining the cause of miscarriage is clinically important for future pregnancy counseling. 5
- When parental chromosomal abnormalities (like translocations) are suspected. 5
Important limitation: Even when genetic testing is ordered, it may not succeed due to:
- Culture failure (occurs in a significant percentage of specimens). 3
- Maternal cell contamination obscuring fetal cells. 3
- Insufficient or degraded tissue. 4, 3
What Gets Reported
When genetic testing IS performed and successful:
- The laboratory report will include both the karyotype (chromosomal composition) AND the sex chromosomes (46,XX for female or 46,XY for male). 1, 2, 3
- Any chromosomal abnormalities detected (trisomies, monosomies, structural anomalies) will be reported. 1, 5, 3
- In recurrent miscarriage populations, approximately 64% of karyotyped specimens are female and 36% are male. 2
Without specifically ordering genetic/chromosomal testing, the pathology report from a D&C will NOT include fetal gender information. 4, 3