What does fetal autopsy unmask in oligohydramnios?

Objective: We aimed to determine the value of autopsy in fetuses with antenatally diagnosed oligohydramnios.

Patients and methods: We evaluated all fetal losses over a period of 6.5 years. Those with oligohydramnios on antenatal scan were critically analyzed. Oligohydramnios was defined as amniotic fluid index of less than five objectively or as an obvious lack of liquor at subjective assessment. A detailed postmortem examination was carried out in all the fetuses after obtaining an informed consent.

Results: Fetal autopsy was conducted in 255 cases. Fifty-five (21.5%) fetuses were diagnosed to have oligohydramnios on antenatal ultrasonography. On analysis of antenatal causes of oligohydramnios, maternal/placental factors were noted in 18%, ultrasound findings known to affect amniotic fluid in 27% while cause remained unidentified in 54.5% of cases. On autopsy, fetal malformations were noted in 61.8% cases, intrauterine growth retardation in 21.8% fetuses and no obvious malformations in 16.3% fetuses. Renal anomalies were noted in 40% cases and non-renal malformations in 21.8% cases.

Conclusion: The postmortem examination helped us to identify the cause of fetal loss in 46 (83.6%) fetuses with antenatal oligohydramnios. A working diagnosis could not have been established without autopsy in 19 (34.5%) cases.     

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings.

OBJECTIVES: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound findings to evaluate the potential benefit of fetal autopsy in fetuses terminated after prenatal diagnosis of malformations. STUDY DESIGN: Retrospective review of patient records in a tertiary referral genetic center in North India during 5-year period (April 2000-March 2005). This includes 206 fetuses, 138 terminated after detecting an anomaly in ultrasonogram and 68 spontaneous fetal losses. In all cases, fetal autopsy was carried out and complimented by radiography, karyotype wherever possible and histopathological examination wherever necessary. In fetuses with prenatally diagnosed malformations, ultrasound findings were compared with autopsy findings. RESULTS: Fetal autopsy was able to provide a definite final diagnosis in 59% (122/206) cases. Fetal autopsy confirmed the ultrasound findings in all cases but two. Moreover, autopsy provided additional findings in 77 cases and of these, 24 cases had a significant change of recurrence risk. CONCLUSION: This study confirms the utility of fetal autopsy in identifying the cause of fetal loss, which will help in the genetic counseling of the couple. In cases with prenatally diagnosed anomalies, the new information from fetal autopsy changes the predicted probability of recurrence in 18% cases. Even though the prenatal ultrasonogram reasonably predicts the malformations, fetal autopsy gives significant additional malformations in one-third of the cases and is essential for genetic counseling.     

Value of perinatal autopsy

OBJECTIVE: To determine how often a perinatal autopsy identified the cause of death, and how frequently this information changed recurrence risk estimates or altered parental counseling. METHODS: We reviewed all autopsies of fetal stillbirths and briefly viable neonates performed by one perinatal pathologist at the University of Alabama Hospital from 1992 to 1994. RESULTS: Four hundred sixteen fetal and early neonatal deaths occurred at our hospital from January 1, 1992, to June 1, 1994. Consent for an autopsy examination was granted for 139 of these (33%), and all autopsies were performed by a single perinatal pathologist. Abnormalities likely to be the cause of death were identified in 130 of 139 cases (94%). Ninety-one subjects did not have structural anomalies: In 14 cases autopsy revealed previously unsuspected pathology that altered parental counseling; in 68 cases autopsy findings were consistent with the clinical obstetrical diagnosis; and in nine cases the cause of death could not be identified. Forty-eight subjects were anomalous. Thirty-seven of these (79%) had been evaluated by antenatal ultrasonography, and autopsy identified additional abnormalities in 51% (19 of 37). In the 11 deaths evaluated neonatally, a previously unsuspected diagnosis likely to be the cause of death was identified in three. Overall, autopsy findings changed recurrence risk estimates and/or parental counseling in 36 of 139 cases (26%). CONCLUSION: The cause of fetal or perinatal death was determined by autopsy in 94% of cases in our series. Counseling and recurrence risk estimates were altered by autopsy findings in 26%.     

Relevance of labor room fetal autopsy in increasing its acceptance

Background: Fetal autopsy is included in the basic protocol of investigating a perinatal death, parental refusal is the main reason for its low rate.

Aim: To increase acceptance of fetal autopsy and to provide better counselling to the couple regarding risk of recurrence in future pregnancies.

Materials and methods: All cases with antenatally diagnosed congenital anomaly resulting in stillbirth or termination before 20 weeks were offered fetal autopsy and it was performed in labor room itself by the fetal medicine specialist after consents. External and internal examination, photograph, infantogram and karyotyping were done, and relevant tissue was sent for histopathology. Correlation between the ultrasound and autopsy finding was done.

Results: Total 674 cases of antenatally detected major congenital anomaly were included in the study. Out of 403 cases of stillbirth and abortion, consent for autopsy was given in 312. Most common defect was cranio-vertebral defect followed by genitourinary anomaly. The autopsy finding correlated with USG findings fully in 63.5% cases, there were additional findings altering diagnosis in 24.7% cases, the diagnosis completely changed in 11.8% cases.

Conclusion: Autopsy if done in labor room increases its acceptance by the couple. Additional findings on autopsy helped in reaching at diagnosis and counseling accordingly.     

Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies

OBJECTIVE: To compare antenatal diagnoses with autopsy findings in pregnancies terminated after ultrasound detection of fetal anomalies. A second aim was to study the quality of antenatal fetal diagnosis over time. DESIGN: Retrospective, multicenter study over two consecutive six-year periods in Uppsala and Stockholm. SETTING: Cases were identified through fetal autopsy reports. SUBJECTS: Three hundred and twenty-eight fetuses from pregnancies terminated between 1992 and 2003 because of ultrasonographically diagnosed anomalies. MAIN OUTCOME MEASURES: The findings at the last ultrasound examination were compared with the autopsy reports. RESULTS: In 299 cases (91.2%) ultrasound findings either exactly matched or were essentially similar to the autopsy findings. In 23 cases (7%) ultrasound findings were not confirmed at autopsy, but the postnatal findings were at least as severe as the antenatal ones. In six cases (1.8%) termination was performed for an anomaly which proved to be less severe than was predicted by ultrasound. The number of such cases was the same in both six-year periods, while the total number of cases increased from 113 in the first to 215 in the second period. Fetal examination provided further diagnostic information in 47% of the cases. In 10% a syndrome was disclosed. CONCLUSION: Termination of pregnancy was not always based on a correct antenatal diagnosis. All fetuses but one from terminated pregnancies had evident anomalies. In six cases (1.8%) the decision to terminate was based on suboptimal prognostic and diagnostic information. Fetal autopsy by an experienced perinatal pathologist is essential to provide a definitive diagnosis.     

Correlation between ultrasound and autopsy findings after 2nd trimester terminations of pregnancy

OBJECTIVE: To compare ultrasound (US) and fetal autopsy findings in 2(nd) trimester termination of pregnancy because of structural fetal anomalies. METHODS: A total of 112 terminations of pregnancy (TOP) between 1999-2003 were reviewed retrospectively. The cases originated from a secondary and a tertiary Fetal Medicine unit in the south Stockholm area, using a common specialized perinatal pathology service. Karyotype was not known at the time of US examination. The findings were compared and classified into four groups according to the degree of agreement between US and autopsy. RESULTS: In 45% of cases there was total agreement between US and autopsy. In 40%, autopsy confirmed all US findings but provided additional information of clinical importance. Partial or total lack of agreement was noted in 11% and 4% of the cases, respectively. Areas of discrepancy involved mainly CNS- and cardiovascular abnormalities and, to a lesser extent, renal anomalies, abdominal wall defects and hydrops/hygroma. Regarding CNS abnormalities the overall rate of agreement was 62%; it was highest in acrania/anencephaly (92%) and lowest in hydrocephaly (39%). CONCLUSION: We find an overall high degree of agreement between US and autopsy findings. Autopsy often provided additional information of clinical value and it should always follow US examination and TOP. Fixation of CNS is crucial for optimal results. Specific limitations of autopsy, i.e., detection of CNS abnormalities, may be reduced by complementary imaging techniques, such as MRI. The ability of US to detect cardiac anomalies is enhanced with the close contact to specialized fetal cardiology.     

Fetal cystic hygroma: prenatal diagnosis and management

Seventeen cases of fetal cystic hygroma detected during ultrasound examination are reported. In nine instances, associated abnormalities were recognized, such as fetal hydrops and a two-vessel cord. All diagnoses were confirmed at autopsy. Karyotyping revealed normal findings in six cases, Turner's syndrome in eight cases, and Edwards' syndrome in one case; culture failure occurred in the remaining two cases. An ultrasound diagnosis of cystic hygroma should be followed by a careful search for other anomalies and by fetal karyotyping. Afterward, genetic counseling is indicated.     

Ultrasound antenatal detection of urinary tract anomalies in the last decade: outcome and prognosis

Objective: This study has been undertaken to determine the frequency and pattern of urinary tract anomalies diagnosed by ultrasound, to correlate the prenatal with postnatal diagnoses and to identify prognostic factors.

Methods: The Ultrasound Unit's database was reviewed for fetal urinary tract anomalies detected between January 2002 and June 2012. Prenatal diagnoses made by ultrasound were confirmed by postnatal ultrasound, as well as with surgical reports. Statistical analysis was performed using the Mann–Whitney U-test, Chi-square and Fisher’s exact tests. p values <0.05 were considered significant.

Results: A total of 838 fetal malformations were prenatally diagnosed by ultrasound with a frequency of 21% of urinary tract anomalies (177/838). Renal pelvis dilatation and hydronephrosis accounted for more than half of the cases (52%). The most frequent postnatal diagnoses were also urinary tract dilatations. The prenatal diagnoses corresponded to the postnatal ones in 88.8% of cases. There was a highly significant association between anterior–posterior renal pelvis diameter above 10?mm in the last ultrasound performed before the birth and the need for surgery (p?Conclusion: We emphasize the high degree of reliability of prenatal ultrasound in the establishment of diagnosis of urinary tract malformations and the prediction of postnatal outcomes.     

The value of cardiovascular magnetic resonance in the diagnosis of fetal aortic arch anomalies

Background: Here we report our preliminary experience of using fetal cardiovascular magnetic resonance (CMR) imaging, particularly with transverse views at the level of the aortic arch, in the diagnosis of aortic arch anomalies.

Materials and methods: Between January 2013 and December 2015, routine prenatal obstetric ultrasound (US), echocardiography (Echo), and 1.5 T CMR were performed on approximately 600 pregnant women. CMR included balanced fast field echo and single-shot fast spin echo sequences. The images were analyzed using an anatomic segmental approach by two radiologists. The prenatal imaging findings were compared with postnatal diagnoses, from imaging or autopsy.

Results: A total of 22 cases with suspected aortic arch anomalies were found by prenatal Echo. These included the following: right aortic arch, 18 cases; double aortic arch, 2 cases; atrial isomerism, 3 cases including 2 with right aortic arch; and pulmonary atresia, aortic overriding and ventricular septal defect, 1 case. Fetal CMR diagnoses were: right aortic arch with aberrant left subclavian artery, 9 cases; right aortic arch with mirror-image branching, 8 cases; double aortic arch, 4 cases; left aortic arch with right aberrant subclavian artery, 1 case. 16 cases were born alive and subsequently underwent evaluation by Echo or MRI and 6 cases had autopsies. There were 23 aortic arch anomalies. Prenatal Echo misdiagnosed 5 of these (5/23), and missed the diagnosis in 4 cases (4/23). Consequently, the accuracy of prenatal Echo was 60.8% (14/23). Both prenatal Echo and CMR misdiagnosed the same single case as a double aortic arch. The correct diagnosis was found to be right aortic arch with aberrant subclavian artery. Consequently, the accuracy of fetal CMR was 95.6% (22/23).

Conclusion: Unlike prenatal Echo, fetal CMR is unaffected by fetal position. Fetal CMR with transverse views at the level of the aortic arch is a useful adjunct for the diagnosis of fetal aortic arch anomalies.     

Fetal genital anomalies: an aid to diagnosis

OBJECTIVE: To report our experience with the prenatal diagnosis of fetal genital anomalies and suggest a protocol for management. METHODS: A retrospective review of all the cases with fetal genital anomalies or phenotype and genotype discrepancy identified by prenatal ultrasound. RESULTS: Twenty cases with abnormal fetal genitalia and four with a phenotype and genotype discrepancy were diagnosed prenatally. Genital anomalies were rarely found in isolation, most were found in combination with renal or multiple structural anomalies. The etiology of abnormal genitalia was broad and included metabolic, chromosomal and genetic syndromes. CONCLUSION: Prenatal detection of genital anomalies should stimulate a detailed ultrasound examination and determination of genotypic sex. Measurement of 17-OHP and Delta(4)-androstenedione or metabolites of the cholesterol pathway in the amniotic fluid and/or maternal urine may be helpful in making a definitive diagnosis. Identification of genital anomalies in fetuses with renal or multiple abnormalities can aid prenatal diagnosis, thereby facilitating accurate counseling of parents who are then in a better position to make informed choices.     

Evaluation of a two-step ultrasound examination protocol for the detection of major fetal structural defects

Objective: To evaluate a two-step screening protocol of ultrasound examinations (11–14 and 20–24 weeks) for the detection of major fetal structural defects. Methods: Retrospective study in a private maternity hospital. Women with viable singleton pregnancies having both first trimester scan and anomaly scan at our department and subsequently delivered at our hospital were included. Major fetal structural defects were defined as those requiring medical or surgical treatment or those causing mental handicap. Results: A total of 3,902 pregnancies included 61 fetuses with structural defects (1.56%). Twenty-six (42.6%) were diagnosed in the first trimester and 29 (47.5%) in the second. Six anomalies were detected in the third trimester or after birth. Overall detection rate of the two-step program was 90.2%. Conclusions: Detailed examination of fetal anatomy at 11–14 weeks resulted in the early diagnosis of about 40% of major structural defects     

Accuracy of diagnosis and counseling of fetal brain anomalies prior to 24 weeks of gestational age

Objective: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks’ gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis.

Methods: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks’ GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed.

Results: Out of 146 cases, 135 (92%) were diagnosed correctly before 24 weeks’ GA. Accuracy was 98% (97/99) in cases with multiple anomalies and 81% (38/47) in cases with an isolated abnormality. Counseling on prognosis was correct in 143 out of 146 cases (98%). Prenatal genetic diagnostics detected an anomaly in 51/113 (45%) of cases. In 14/62 (23%) cases prenatal karyotyping was normal, but postnatal array-CGH detected a pathogenic anomaly.

Conclusions: Despite the challenges of early gestation, accuracy in diagnosing and counseling fetal brain anomalies before 24 weeks’ GA was high. Prenatal genetic testing is a valuable diagnostic tool and should be offered to all women with fetal brain anomalies. Considering the many different types of anomalies and diverse etiologies, a multidisciplinary approach is essential for counseling on postnatal outcome.     

Fetal brain MRI in polyhydramnios: is it justified?

Abstract

Introduction: Despite meticulous investigation of polyhydramnios cases, in many of these cases, congenital anomalies are detected only after birth. The aim of our study was to explore the contribution of fetal brain MRI to the detection of CNS anomalies in cases of polyhydramnios.

Materials and methods: This was retrospective cohort study on fetuses referred for the investigation of polyhydramnios at a single tertiary center. All fetuses underwent a detailed sonographic anatomical scan and a fetal brain MRI. Isolated and nonisolated polyhydramnios were differentiated according to associated anomalies. MRI findings were compared between the groups.

Results: A total of 46 fetuses were included in the study. Brain anomalies were detected in ultrasound in 12 (26%) cases while MRI detected brain anomalies in 23 (50%) cases. MRI detected more anomalies in fetuses with nonisolated compared to isolated polyhydramnios (62.9% and 31.6%, respectively, p?=?.019).

Conclusions: Fetal brain MRI may contribute to the evaluation of fetuses with polyhydramnios. The clinical value and cost-effectiveness of MRI use in the routine work-up of polyhydramnios should be assessed in future studies.     

Fetal abnormalities leading to termination of twin pregnancies: the 17-year experience of a single medical center

Objective: To assess fetal abnormalities leading to termination of pregnancy (TOP) performed in twin pregnancies.

Method: The current study consisted of all women with dichorionic twin pregnancies (study group) who underwent TOP due to fetal abnormalities in our institute from 1999 to 2015. The data were compared to our registry of all parturient women with a singleton pregnancy (control group) that underwent TOP due to fetal anomalies at the same period.

Results: There were 2495 cases of TOP because of fetal indications during the study period. Of them, 86 (3.4%) and 2409 (96.6%) were from the study and control group, respectively. Structural anomalies were the leading indication for TOP in twins compared with singleton pregnancies (81.4% versus 50.9%, respectively, p?p?p?Conclusions: We found a different distribution for fetal anomalies leading to TOP in twins versus singleton pregnancies. The main indication for TOP in the study group was structural malformations, with a predominance of CNS abnormalities.     

Determinations of antepartum fetal death

Objectives

This study was conducted to analyze the maternal and fetal etiologies of intrauterine fetal death, and to assess the diagnostic accuracy of an antenatal ultrasound, in the year 2007–208, at Lady Goschen Hospital, Mangalore.

Methods

The study is a prospective, non interventional, observational study, with 28 women as the subjects. Women admitted to the labor room with intrauterine fetal death, were counseled for fetal autopsy after delivery. Written and informed consent was taken from the couple for the autopsy examination, and fetus with the placenta was sent to Kasturba Medical College, Pathology Department for histopathology.

Results

Peak incidence was seen among the women 25–30 years of age with most of them being gravida two (46.43%). Maternal hypertensive disorders (28.56%) and fetal anomalies (32.14%) were the most common associations with fetal death. Unexplained etiology of fetal death was associated with gestational age of 36 weeks or more (75%), mostly in primigravida (43%), with fewer than four antenatal visits. Ultrasound was able to detect 55.55% of fetal anomalies antenatally.

Conclusions

Fetal autopsy is a must in accurately diagnosing the cause of fetal death. This has a bearing on the future pregnancy with respect to risks of recurrence.     

Levels of agreement between clinical examination and transabdominal ultrasound evaluation of fetal head position in the second stage of labor

Aim: To compare transvaginal digital examination performed by residents and attending physicians to transabdominal suprapubic ultrasound in the evaluation of fetal head position in the second stage of labor.

Methods: A prospective study was conducted at a tertiary center and included pregnant women at term, with normal singleton cephalic presentation fetuses. All patients had ruptured membranes and were evaluated during the second stage of labor. Fetal head position was assessed consecutively by two clinicians (one resident and one attending physician). Afterwards, transabdominal suprapubic ultrasound was performed by another observer. Examiners were blinded to each other’s findings. Cohen’s kappa test was used to assess the degree of agreement between the evaluation methods.

Results: One-hundred sixty-one women were included. Transvaginal examination was consistent with the ultrasound in 45.0% of cases (95% CI: 37–53%) when the examination was performed by residents (k?=?0.349) and in 67% (95% CI: 60–74%) if the attending physician carried out the evaluation (k?=?0.604). When considering only the anterior positions, the Cohen’s kappa test was 0.426 and 0.709, respectively.

Conclusion: Transabdominal suprapubic ultrasound improved the accuracy of the evaluation of fetal head position, namely when transvaginal digital examination was performed by residents. This may be important especially when instrumental deliveries are considered.     

Diagnosis and cause of death in a neonatal intensive care unit – How important is autopsy?

Objectives.?To characterize mortality in a tertiary referral Neonatal Intensive Care Unit (NICU) in Portugal and evaluate the concordance between ante-mortem and post-mortem diagnoses.

Methods.?Retrospective review of the clinical and pathological records of infants who died in five consecutive years was done. Pathological findings and clinical diagnoses were compared and classified according to general concordance and to modified Goldman classification.

Results.?During the referred period, 1938 patients were admitted to the NICU, with a mortality rate of 5.7% (110 patients). The median of age at death was 10.5 days and the most frequent causes of death were congenital malformations and prematurity with its complications. Autopsy was performed in 53 patients resulting in a 48.2% overall autopsy rate. There was complete agreement between pathological and clinical diagnoses in 18 cases (34%) and additional findings were identified in 22 cases; in 13 cases (24.5%), the diagnosis was revised or established by pathology. Five autopsies revealed information relevant for genetic counseling.

Conclusion.?Despite the high agreement rate between clinical and pathological diagnoses, autopsy frequently added important data, including several cases in which it established the diagnosis or provided information relevant for parental counseling regarding future pregnancies.     

Outcomes in the absence of the ductus venosus diagnosed in the first trimester

Purpose: To clarify the outcomes of the absence of the ductus venosus (DV) diagnosed in fetuses suspected to have a structural abnormality during a morphological assessment in the first trimester.

Methods: Infants in whom ultrasound fetal morphological assessments were attempted in the first trimester (11 to 13–6 weeks of gestation) and who were subsequently delivered between 2013 and 2015 at Showa University Hospital were enrolled. In cases in which the absence of the DV was diagnosed in the first trimester, the prognosis was assessed.

Results: First-trimester ultrasound screening was performed in a total of 2610 cases between 2013 and 2015. Fetal edema (n?=?38), hydrops (n?=?16), abnormal four-chamber view findings (n?=?2), and tricuspid regurgitation (n?=?1) were observed in a total of 52 cases (2.0%). In 4 of the 52 cases with abnormal ultrasound findings, the absence of the DV was detected.

Conclusion: If fetal edema or hydrops in early pregnancy is found without any other structural abnormalities, not only chromosomal abnormalities should be suspected but also an evaluation for the absence of the DV should be included. In addition, absence of the DV with fetal edema may be associated with the outcomes of cardiac dysfunction, chromosome abnormalities, and intrauterine sudden death. Severe fetal edema is associated with a poor prognosis, and the family must be carefully informed of the potential outcomes.     

Isolated absent or hypoplastic nasal bone in the second trimester fetus: is amniocentesis necessary?

Objective.?To elucidate the significance of isolated absent or hypoplastic nasal bone in the second trimester ultrasound scan.

Methods.?All cases of absent or hypoplastic nasal bone (length?<?5th percentile) encountered during 2007–2009 were retrieved from database and all the ultrasound findings including structural abnormalities and soft markers for Down syndrome and fetal karyotype were reviewed. The cases were categorized into a study group with isolated absent or hypoplastic nasal bone and a comparison group with additional ultrasound findings. The incidence of Down syndrome confirmed by karyotyping was compared between the two groups.

Results.?Among 14 fetuses with absent or hypoplastic nasal bone identified, six (42.9%) had Down syndrome and eight (57.1%) were normal. All (100%) of the six fetuses with isolated absent or hypoplastic nasal bone (Study Group) had normal karyotype, while six (75%) of the other eight fetuses with additional ultrasound findings (Comparison Group) had Down syndrome (p?=?0.010).

Conclusions.?The use of isolated absent or hypoplastic nasal bone in the second trimester ultrasound scan for Down syndrome screening may not be effective. Amniocentesis, however, is indicated for fetuses with structural abnormality or additional soft marker which should be carefully searched by an experienced ultrasonographer.