The Prenatal Ultrasound Diagnosis and Perinatal Outcome of Polydactyly: A Retrospective Cohort Study, 2016-2023.

OBJECTIVE: To determine the significance of polydactyly identified on prenatal ultrasonography and provide a detailed analysis of characteristics and perinatal outcomes of fetal polydactyly. METHODS: This is a retrospective cohort study of pregnancies with a postnatal diagnosis of fetal polydactyly between January 2016 and December 2023. The population was divided into 2 groups at postnatal diagnosis: the isolated polydactyly group and the nonisolated polydactyly group. Clinical data, prenatal ultrasonography, related genetic results, and postnatal outcomes were obtained. RESULTS: Our study cohort comprised 328 fetuses with polydactyly. The overall detection rate of polydactyly by prenatal ultrasound was 19.2%, and the first detection rate in the first-, second-, and third-trimester were 0.9%, 14.6%, and 3.7%, respectively. Preaxial polydactyly (PPD) of hand was the most common type and the most common type of foot polydactyly was postaxial polydactyly (PAP) both in the isolated group and in the nonisolated group; the central polydactyly is rare. Syndactyly was the most common abnormality complicated with polydactyly. Between the nonpolydactyly group, the isolatedpolydactyly group and the nonisolated polydactyly group, there was a significant difference in perinatal outcome (P < .001). CONCLUSION: The second trimester is the best gestational age for prenatal ultrasound detection of polydactyly. Polydactyly of hand was more likely PPD, while polydactyly of foot was more likely PAP. When polydactyly is detected by routine prenatal ultrasound, detailed ultrasound examination and prenatal counseling should be performed to determine the possibility of an underlying genetic syndrome.

Establishing Reference Intervals for Normal Fetal Lung Biological Parameters at 21-40 Weeks of Gestation in the Chinese Population: A Cross-Sectional Study.

(1) Background: There is no reliable way to assess antenatal fetal pulmonary hypoplasia; however, the biological parameters of the fetal lung can help in evaluating fetal lung development. This study aimed to establish the reference intervals for normal fetal lung biological parameters at 21-40 weeks among the Chinese population. (2) Methods: This was a cross-sectional study of Chinese groups, and included a total of 1388 normal single pregnant women at 21-40 weeks' gestation. We selected 2134 images of a standard four-chamber view (4CV). ImageJ software (Release 2.14.0) was used to measure the left and right lung areas using a manual tracing method; the elliptic function key was used to measure the fetal thoracic circumference (TC), thoracic area (TA), head circumference (HC), heart area (HA), and abdominal circumference (AC). Based on the above measurements, the following parameters were calculated: lung area to head circumference ratio (LHR), total lung area (TLA), TLA/Weight (mm2/g), cardiothoracic ratio (CTR), lung-thoracic area ratio (TLA/TA), lung-heart area ratio (TLA/HA), TC/AC, and TC/HC. (3) Results: The left and right lung areas and LHRs positively correlated with gestational age (R2 = 0.85, 0.88, 0.66, 0.71, p < 0.001). From 21-40 weeks, the left and right lung areas and TLA increased by about 3.33 times, 3.16 times, and 3.22 times, respectively. The means of left and right LHRs increased by about 1.94 times and 1.84 times, respectively. TLA/Weight (mm2/g) was weakly correlated with gestational age, while CTR, TLA/TA, TLA/HA, TC/AC, and TC/HC had no significant correlation with gestational age. There was no statistically significant difference in fetal lung parameters between different genders of newborns, p > 0.05. (4) Conclusions: Our study establishes the reference intervals for normal Chinese fetal lung biological parameters at 21-40 weeks. Moreover, the reference intervals apply to fetuses of different genders. This paper can provide a reference for the prenatal non-invasive assessment of fetal pulmonary hypoplasia.

The grading of stomach position for postnatal outcomes in isolated left-sided congenital diaphragmatic hernia: A systematic review and meta-analysis.

OBJECTIVES: To evaluate the correlation between stomach position (SP) grading and postnatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernias (CDHs). METHODS: A literature search was conducted using the PubMed, Embase, and Cochrane Library databases. The corresponding 95% confidence intervals (CIs) were used to assess the differences in the odds of mortality according to the SP graded as level 0 to level 3. To evaluate the reliability of our results, a sensitivity analysis was also conducted. RESULTS: Nine papers with a total of 542 fetuses with isolated left-sided CDH were included. Congenital diaphragmatic hernia pregnancies complicated by an intrathoracic stomach had higher odds of neonatal mortality when compared with intraabdominal stomach (odds ratio [OR] 2.86; 95% CI 1.38-5.94). Four papers with SP grading from level 0 to level 3 were included in a subgroup analysis. Stomach position at level 1 and level 2 had lower odds of neonatal mortality when separately compared to level 3 (OR 0.12; 95% CI 0.04-0.33) and (OR 0.30; 95% CI 0.16-0.54). Stomach position at level 1 had lower odds of neonatal mortality when compared with level 2 + 3 (OR 0.25; 95% CI 0.09-0.66). CONCLUSION: Survival of fetuses with isolated left-sided CDH is correlated with the SP.

The upper airway parameters: the potential diagnostic clues for congenital intrathoracic lesions.

BACKGROUND: The diagnosis of congenital intrathoracic lesions still has limitations. The airway development was influenced by intrathoracic factors. Whether the diagnostic value of the upper airway parameters in congenital intrathoracic lesions has not been confirmed. OBJECTIVES: We aimed to compare fetal upper airway parameters between normal fetuses and fetuses with intrathoracic lesions, and we tried to verify its diagnostic value in intrathoracic lesions. METHODS: This was an observational case-control study. In the control group, 77 women were screened at 20-24 weeks' gestational age, 23 were screened at 24-28 weeks' gestational age, and 27 were screened at 28-34 weeks' gestational age. In the case group, 41 cases were enrolled (6 cases of intrathoracic bronchopulmonary sequestration, 22 of congenital pulmonary airway malformations, and 13 of congenital diaphragmatic hernia). Fetal upper airway parameters (tracheal width, the narrowest lumen width, and width of the subglottic cavity and laryngeal vestibule) were measured using ultrasound equipment. The correlations between fetal upper airway parameters and gestational age, and the differences in fetal upper airway parameters between cases and controls, were analyzed. The standardized airway paraments were acquired, and their potential diagnostic value for congenital intrathoracic lesions were analyzed. RESULTS: The fetal upper airway parameters of both groups were positively correlated with the gestational age: The control group, tracheal width (R2 = 0.569, p < 0.001), narrowest lumen width (R2 = 0.429, p < 0.001), subglottic cavity width (R2 = 0.551, p < 0.001), laryngeal vestibule width (R2 = 0.349, p < 0.001). The case group (tracheal width R2 = 0.474, p < 0.001) narrowest lumen width (R2 = 0.425, p < 0.001), subglottic cavity width (R2 = 0.623, p < 0.001), laryngeal vestibule width (R2 = 0.347, p < 0.001). Fetal upper airway parameters of the cases group were smaller than those of the controls group. The tracheal width in fetuses with congenital diaphragmatic hernia was the smallest among the other case groups studied. The standardized tracheal width has the best diagnostic value for congenital intrathoracic lesions in the standardized airway paraments (the area under the ROC curve was 0.894), and has a high diagnostic value for congenital pulmonary airway malformations and congenital diaphragmatic hernia (the area under the ROC curve was 0.911 and 0.992, respectively). CONCLUSION: Fetal upper airway parameters differ between normal fetuses and fetuses with intrathoracic lesions, and might offer potential diagnostic clues for congenital intrathoracic lesions.

A case report of serpentine-like syndrome and review of literature.

BACKGROUND: Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings. CASE PRESENTATION: From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS. DISCUSSION AND CONCLUSIONS: SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology.