Fetal Renal Duplicated Collecting System at 14-16 Weeks of Gestation.

(1) Background: To examine the incidence of the prenatal diagnosis of the renal double-collecting system (rDCS) and describe its clinical outcome and associated genetic abnormalities. (2) Methods: This retrospective study included women who attended the obstetric clinic for early fetal anatomic sonography with findings of a renal DCS. Diagnosis was conducted by an expert sonographer using defined criteria. (3) Results: In total, 29,268 women underwent early ultrasound anatomical screening at 14-16 weeks, and 383 cases of rDCS were diagnosed (prevalence: 1:76). Associated abnormalities were diagnosed in eleven pregnancies; four had chromosomal aberrations. No chromosomal abnormalities were reported in isolated cases. Ectopic uretrocele and dysplastic kidney were diagnosed in 6 (1.5%) and 5 (1.3%) fetuses, respectively. One girl was diagnosed with vesicoureteral reflux and recurrent UTIs, and two boys were diagnosed with undescended testis. The recurrence rate of rDCS was 8% in subsequent pregnancies. (4) Conclusions: In light of its benign nature, we speculate that isolated rDCS may be considered a benign anatomic variant, but a repeat examination in the third trimester is recommended to assess hydronephrosis.

Prenatal detection of gastrointestinal bubbles since early pregnancy: Clues to correct diagnosis.

OBJECTIVE: To characterize gastrointestinal bubbles detected since early pregnancy and to describe corresponding diagnoses. METHOD: A retrospective cohort review of all cases in which gastrointestinal bubbles were detected starting in early prenatal transvaginal scans at 14-17 weeks of gestation between the years 2007 and 2021. Sonographic features and data regarding associated anomalies, genetic abnormalities, and pregnancy outcome were evaluated. RESULTS: Bubbles were detected in 23 of 27 073 early scans and a total of 31 394 scans. Diagnosis was available in 22 cases. Transient bubbles were detected in 10 cases and represented normal peristalsis. Fixed double bubble was detected in nine cases. Double-walled double bubbles represented duodenal duplications (three cases) and esophageal duplications (two cases). Simple cysts represented duodenal atresia (three cases) and a pancreatic cyst (one case). A triple bubble represented duodenal obstruction from Ladd bands in one case. Quadribubble was detected in two cases and represented jejunal atresia. CONCLUSION: Prenatal detection of gastrointestinal bubbles can accurately diagnose physiological versus pathological upper gastrointestinal conditions. Transient bubbles are physiological. Fixed double bubbles might represent either duodenal atresia or esophageal/duodenal duplications when a double wall is demonstrated. Three or four bubbles might represent more distal intrinsic or extrinsic obstruction.

Small for gestational age: the familial perspective.

BACKGROUND: There are multiple etiologies for being born small for gestational age (SGA). However, extended familial data in idiopathic cases have been scarcely reported. OBJECTIVE: Our aim was to explore the familial history of SGA newborns and describe the proportion and distribution of SGA in their parents and parental siblings. METHODS: This was a retrospective study performed at an obstetrics clinic holding a detailed reliable electronic database. Between 2008 and 2017, data of 14,003 patients and 20,617 pregnancies were recorded. Parents of SGA infants were identified and extended familial history was obtained by questionnaires, including birth weights (BWs) and gestational age at birth of the parents and parents' siblings. SGA was defined as a BW below the 10th percentile. Proportions of maternal, paternal, and parental siblings' SGA were calculated. Chi-square test was performed to assess the relationship between SGA family member's gender and SGA infants' gender, and between the relative's gender and their family relationship to the infant. RESULTS: About 2100 women had a history of a previous infant born SGA, however, after exclusion the final cohort comprised 926 women with a previous SGA infant. In 473 cases there was at least one other family member of the infant born SGA: father, mother, aunt, or uncle of the infant, representing a prevalence of 51% (473/926) of familial SGA. Out of familial SGA cases, maternal SGA was found in 55% (260/473), and paternal SGA was found in 28.1% (133/473). 27.6% had more than one SGA relative. Eighteen infants had both an SGA father and an SGA mother (3.8%). A history of an SGA aunt or uncle was found in 44% (209/473) of familial SGA cases, which was 22.5% (209/926) of the entire cohort. Parental sibling SGA occurred almost twice in mother's siblings as compared to father's siblings. Chi-square test revealed no association between the SGA relative's gender and their family relationship to the infant. There was no association between the SGA infant's gender and the SGA relative's gender. CONCLUSIONS: A family history of SGA is common in SGA infants, and occurs most often in mothers. This study found 22% SGA in parental siblings, in maternal siblings more than paternal siblings, supporting the possibility of a genetic component in SGA trait transmission. In clinical practice, when counseling parents with a growth-restricted fetus from an unknown etiology, extended familial birthweight history should be obtained and taken into account, which may be helpful in reducing parental anxiety.

Fetal Trigonocephaly (Strawberry Skull) in Early Pregnancy.

Trigonocephaly was previously described prenatally in association with severe abnormalities, mostly observed after 18 weeks of gestation. We describe our experience with this finding in early pregnancy, between 14 and 17 weeks of gestation. Our series includes 18 cases of trigonocephaly with several etiologies; trisomy 18, de novo translocation, thanatophoric dysplasia, and open spina bifida without hydrocephalus. Two fetuses had no other significant abnormalities and a spontaneous normalization of the skull shape was observed on follow-up. Both had normal genetic testing and postnatal outcome. These two cases represent a new phenomenon of an isolated transient form with normal outcome.

Early prenatal diagnosis of double inlet left ventricle.

OBJECTIVE: The aim of this study to describe the presentation of double inlet left ventricle (DILV) very early in prenatal life, to assess its prevalence and to portray the associated anomalies. METHODS: This was a retrospective study which included all the women who attended our clinic for early fetal screening sonography, between 2006 and 2020. Most of the screening was done at 14-16 weeks of gestation (except one high risk pregnancy, which was performed at nine gestational weeks), and included an anatomic fetal scan and Doppler imaging. The diagnosis of DILV was done based on sonographic features of abnormal four-chamber view. Complete fetal echocardiography was carried out to rule out additional heart malformations. RESULTS: Out of 26,805 early prenatal transvaginal ultrasound screening examinations, 14 cases of DILV were diagnosed. The gestational age range of our DILV diagnosis was 9-16 gestational weeks. All pregnancies were terminated as per parental request. In five fetuses, a chromosomal analysis was performed, one had trisomy 21, and the rest fetuses had a normal karyotype. In two fetuses, an autopsy was performed and the diagnosis of DILV was confirmed in both. CONCLUSIONS: Very early prenatal detection of DILV is possible and may have an implication in parent decision regarding their pregnancy future.

Early prenatal diagnosis of tricuspid valve dysplasia.

OBJECTIVE: To report our experience in early prenatal diagnosis of six cases of tricuspid valve dysplasia (TVD) and to delineate echocardiographic features. METHODS: This was a retrospective study which included all the women who attended our clinic for early fetal screening sonography, between 2001 and 2018. The ultrasound screening was done at 11-16 weeks of gestation, and included an anatomic fetal scan and Doppler imaging. The diagnosis of TVD was done based on sonographic features visualized on four chamber view and color mapping of the valve. Complete fetal echocardiography was carried out to rule out additional heart malformations. RESULTS: Out of 34,933 early prenatal transvaginal ultrasound screening examinations, six cases of TVD were diagnosed. Five of the pregnancies were terminated as per parental request, and one fetus was delivered at term and died shortly after birth. In three fetuses a chromosomal analysis was performed, one had trisomy 21, one had an abnormal CGH, and the third had a normal karyotype. In two fetuses an autopsy was performed and the diagnosis of TVD was confirmed in both. CONCLUSION: Early prenatal detection of TVD is possible and may aid in parental counseling. Larger studies, examining the outcome of TVD should be considered.

Early Prenatal Diagnosis of Double Aortic Arch: Prevalence, Associated Anomalies and Outcome.

PURPOSE: Our aims were to describe the feasibility of diagnosis of DAA in early pregnancy and to assess its prenatal prevalence, associated anomalies and outcome. MATERIALS AND METHODS: A retrospective cohort review of all DAA cases diagnosed by early prenatal transvaginal scans at 12-17 weeks of gestation between the years 2007-2018 was performed. Associated anomalies, genetic abnormalities and long-term postnatal outcome were evaluated. RESULTS: 12 cases of DAA were diagnosed by early prenatal transvaginal scans at a median of 15 (range: 12-17) weeks of gestation out of a total of 28 654 early scans preformed with a prevalence of at least 1:2378. Associated anomalies/genetic abnormalities were found in 5/12 (42 %) cases. The diagnosis was confirmed postnatally in all newborns. In two cases termination of pregnancy was performed. Four patients (40 %) were symptomatic. Six patients (60 %) underwent surgery due to symptoms or due to severe obstruction on imaging with resolution of symptoms in all except one patient. CONCLUSION: DAA can be readily diagnosed transvaginally even in the first trimester. Its prevalence is 1:2387. A search for associated anomalies and genetic abnormalities should be performed. If DAA is isolated, the prognosis with or without surgery is usually good.

Incidence of congenital thoracic malformations detected by prenatal ultrasound.

BACKGROUND: The increased and earlier use of prenatal ultrasound has facilitated the detection of congenital thoracic malformations (CTMs). Our Pediatric Pulmonology Institute follows an increasing number of patients with CTMs. Thus, we aimed to evaluate and describe prenatal sonographic findings of CTM, and to estimate changes in detection rates of CTMs over a period of 16 years. METHODS: A retrospective, cross-section analysis of prenatal ultrasound (US) screening tests carried out in a large community-based clinic, comparing two periods: 2001-2007 and 2007-2017. RESULTS: A total of 34 716 prenatal US were performed at a median gestational age of 15.4 weeks (range, 11.6-23.9) and 15.7 weeks (range, 12-33.6) in 2001-2007 and 2007-2017, respectively. In 2001-2007, 12 016 prenatal US tests detected 19 CTMs, compared to 30 CTMs in 22 700 tests in 2007-2017. Detection rates did not change (1.58/1,000 in 2001-2007 versus 1.32/1,000 in 2007-2017, P = 0.64). The most common abnormality was congenital pleural effusion (CPE) (17 cases, 34.7%), followed by congenital pulmonary airway malformation) and congenital diaphragmatic hernia; 13 cases each, 26.5%. Twenty CTMs, mainly congenital diaphragmatic hernia and CPE, were associated with other fetal lesions. CONCLUSIONS: Congenital diaphragmatic hernia and CPE tend to appear with multiple lesions and warrant further attention. The incidence rates stayed stable when comparing the last decade to previous years. Thus, the increased referral of CTM can be attributed to an increase in the number of prenatal screening studies performed, rather than a true higher incidence.

Unilateral Renal Agenesis Diagnosed on Early Prenatal Trans-Vaginal Scans.

BACKGROUND: Unilateral renal agenesis is a rare finding. There are no large-scale studies reporting this finding in early pregnancy. OBJECTIVES: To evaluate the incidence of unilateral renal agenesis (URA) and of associated anomalies diagnosed by early prenatal trans-vaginal sonography. METHODS: We performed a retrospective chart review of all 59,382 trans-vaginal scans performed at 14-16 weeks gestation by a single operator at different clinics during the period 1994-2013. RESULTS: The incidence of URA was 1:1212 (49/59382 cases). Associated anomalies were diagnosed in 22 cases (45%). Renal anomalies were diagnosed in 22.4%. Extra-renal anomalies (with exclusion of a single umbilical artery or nuchal edema as isolated findings) were diagnosed in 24.5%. Ambiguous genitalia were diagnosed in 8.2%. CONCLUSIONS: URA is a rare finding in early trans-vaginal sonography. Associated anomalies are very common and should be sought.

Early prenatal ultrasound diagnosis of congenital thoracic malformations.

Objectives: To evaluate and describe the spectrum and rate of congenital thoracic malformations (CTMs) diagnosed by early prenatal sonography (gestational age (GA) less than 16 weeks). Methods: A retrospective, cross-sectional analysis of prenatal ultrasound screening tests in a community-based clinic. Results: In 2001-2017, 31 261 prenatal ultrasound tests detected 31 CTMs at a gestational age of 15.2 (range, 11.6-16.0) weeks. The most common malformation was congenital pleural effusion (CPE) (15 fetuses, 0.48/1000), followed by congenital diaphragmatic hernia (CDH) (10 fetuses, 0.32/1000). Pulmonary hypoplasia (PH), congenital pulmonary airway malformation and broncho-pulmonary sequestration appeared in much smaller proportions (three, two and one fetuses, respectively). Most CTMs were associated with additional fetal lesions (15 fetuses, 48%). All early CDH (10 fetuses) and PH (three fetuses) and 6/15 with CPE had termination of pregnancy or missed abortions. Conclusions: Prenatal ultrasound before 16 GA was able to detect CTMs in 0.99/1000 of screening ultrasound (US) performed. Most CTMs tended to appear with multiple lesions and were associated with unfavorable outcomes. Earlier prenatal diagnosis may enable early termination of pregnancy in fetuses with lethal malformations.

Early sonographic manifestation of fetal congenital lobar emphysema.

Advanced fetal sonographic equipment has contributed to the increase in prenatal diagnosis of congenital thoracic malformations. Among these anomalies is congenital lobar emphysema (CLE), a rare congenital anomaly characterized by over distention and overexpansion of the involved fetal pulmonary lobe. Several studies addressed the prenatal diagnosis of CLE in mid second or early third trimester. The early prenatal diagnosis and the outcome of a case of CLE are reported in this study.

Characteristics and Outcomes of Ptyalism Gravidarum.

BACKGROUND: Ptyalism gravidarum (PG) is a condition of hypersalivation that affects pregnant women early in gestation. Symptoms include massive saliva volumes (up to 2 liters per day), swollen salivary glands, sleep deprivation, significant emotional distress, and social difficulties. OBJECTIVES: To examine maternal and fetal characteristics and pregnancy outcomes of patients with PG. METHODS: Patients diagnosed with PG in our clinic during the years 2001-2016 were identified and contacted. Demographic data were extracted from patient charts and clinical and outcome data was collected via telephone interviews. RESULTS: The incidence of PG was 1/963 (0.09%) in our sample. Eleven out of 22 women (40%) with PG were also diagnosed with hyperemesis gravidarum. Fetal gender did not increase the risk. Of the mothers presenting with PG, 37% had a positive family history for this condition. There was no associated increase in the rate of fetal or maternal complications. Two women reported a resolution of the symptoms immediately following hypnosis with acupuncture treatment. CONCLUSIONS: Although PG represents an unpleasant mental and physical condition, it does not pose any specific risk to the health of the mother or increase adverse perinatal outcomes for the fetus. Alternative medicine could play a role in the treatment of PG.

Early Transient Prenatal Ultrasound Features of Choanal Atresia.

We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. This finding disappeared a few weeks later. Three cases were unilateral choanal atresia, and 1 was bilateral. Transient enlargement of the nasal cavity in early pregnancy appears to be a US sign of choanal atresia.

Prenatal Sonographic Abnormal Appearances of the Fetal Hyaloid Artery: From Normal Variants to Pathology.

This is a case series on the abnormal sonographic appearance and outcome of the fetal hyaloid artery (HA) detected during between 1987 and 2015 at one medical center. Fifteen cases were detected during fetal anatomy scans, usually performed at 14 to 16 weeks' gestation. Three other cases were diagnosed following referral for a second opinion. In nine fetuses, the HA regressed normally throughout pregnancy. Of them, eight neonates had normal outcomes and one had cataract at the same eye. All nine other cases ended with adverse outcomes. Failure of the HA to regress in the third trimester appears to be an indicator of congenital blindness.

Detection Rate and Sonographic Signs of Trisomy 21 Fetuses at 14-17 Weeks of Gestation.

BACKGROUND: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation. OBJECTIVES: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. METHODS: We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14-17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa). We calculated the fraction of T21 cases by dividing the total number of cases with abnormal sonographic findings by the total number of diagnosed T21 cases. We also examined the percentage of verified T21 cases that had completely normal prenatal screening tests prior to the early prenatal TVS, thus revealing the contribution of this examination to the existing prenatal screening. Fisher's exact test was used to calculate odds ratios for each sonographic marker. RESULTS: Of 137 T21 fetuses, 123 had sonographic markers on early TVS, yielding a prediction capability of at least 89.87%. Of all T21 cases, 14% had completely normal nuchal translucency/first-trimester screening prior to the abnormal 14-17 week TVS findings. Isolated abnormal sonographic findings, which were found to increase the risk for T21, were common atrioventricular septal canal (odds ratio 88.88), duodenal atresia (OR 88.23), nuchal edema (OR 39.14), and hydrocephalus (OR 15.78). Fetal hydronephrosis/pyelectasis was non-significant when isolated (OR 1), and cardiac echogenic focus was associated with a decreased risk (OR 0.13). CONCLUSIONS: Early prenatal TVS at 14-17 weeks may identify almost 90% of T21 and adds 14% to the identification rate at the first-trimester screening.