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1.
Am J Reprod Immunol ; 91(5): e13865, 2024 May.
Article in English | MEDLINE | ID: mdl-38775338

ABSTRACT

INTRODUCTION: Seminal plasma hypersensitivity (SPH) is a rare and often misdiagnosed condition characterized by local and/or systemic reactions to seminal plasma proteins following exposure to semen. We aimed to summarize key symptomatology, diagnostic features, and management options for SPH. METHODS: The databases PubMed, EMBASE, Web of Science, Google Scholar, and Cochrane Review were searched with key words "seminal plasma hypersensitivity" and "seminal fluid allergy" through September 2023. Exclusion criteria included non-English articles, in vitro studies, publication before 1990, duplicates, and articles with no clinical relevance to SPH in women. RESULTS: The search yielded 53 articles for review. Of these, 60.5% described systemic SPH and 39.5% described localized. CONCLUSION: Diagnosis of SPH relies on a thorough patient history and confirmatory skin prick testing. The use of IgE assays is controversial and less accurate for cases of localized SPH. Knowledge of disease immunopathology, systemic versus localized symptom presentation, patient preference, and desire to conceive should guide management options. Artificial insemination has the potential for severe adverse reactions in systemic SPH so necessitates extra procedural precautions. SPH does not appear to impair fertility. Additional research on specific allergens implicated in SPH can aid in the development of more targeted immunotherapy approaches with improved safety and efficacy.


Subject(s)
Hypersensitivity , Semen , Humans , Male , Allergens/immunology , Hypersensitivity/diagnosis , Hypersensitivity/therapy , Hypersensitivity/immunology , Immunoglobulin E/immunology , Immunoglobulin E/blood , Insemination, Artificial , Semen/immunology , Seminal Plasma Proteins/immunology , Skin Tests , Female
2.
Clin Nutr ; 43(6): 1216-1223, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38636347

ABSTRACT

BACKGROUND & AIMS: Both maternal metabolic dysregulation, e.g., gestational diabetes mellitus (GDM), and maternal supply of nutrients that participate in one-carbon (1C) metabolism, e.g., folate, choline, betaine, and vitamin B12, have been demonstrated to influence epigenetic modification such as DNA methylation, thereby exerting long-lasting impacts on growth and development of offspring. This study aimed to determine how maternal 1C nutrient intake was associated with DNA methylation and further, development of children, as well as whether maternal GDM status modified the association in a prospective cohort. METHODS: In this study, women with (n = 18) and without (n = 20) GDM were recruited at 25-33 weeks gestation. Detailed dietary intake data was collected by 3-day 24-h dietary recall and nutrient levels in maternal blood were also assessed at enrollment. The maternal-child dyads were invited to participate in a 2-year follow-up during which anthropometric measurement and the Bayley Scales of Infant and Toddler Development™ Screening Test (Third Edition) were conducted on children. The association between maternal 1C nutrients and children's developmental outcomes was analyzed with a generalized linear model controlling for maternal GDM status. RESULTS: We found that children born to mothers with GDM had lower scores in the language domain of the Bayley test (p = 0.049). Higher maternal food folate and choline intakes were associated with better language scores in children (p = 0.01 and 0.025, respectively). Higher maternal food folate intakes were also associated with better cognitive scores in children (p = 0.002). Higher 1C nutrient intakes during pregnancy were associated with lower body weight of children at 2 years of age (p < 0.05). However, global DNA methylation of children's buccal cells was not associated with any maternal 1C nutrients. CONCLUSIONS: In conclusion, higher 1C nutrient intake during pregnancy was associated with lower body weight and better neurodevelopmental outcomes of children. This may help overcome the lower language scores seen in GDM-affected children in this cohort. Studies in larger cohorts and with a longer follow-up duration are needed to further delineate the relationship between prenatal 1C nutrient exposure, especially in GDM-affected pregnancies, and offspring health outcomes.


Subject(s)
Child Development , Diabetes, Gestational , Humans , Female , Pregnancy , Prospective Studies , Child Development/physiology , Follow-Up Studies , Adult , Child, Preschool , DNA Methylation , Choline/administration & dosage , Choline/blood , Prenatal Exposure Delayed Effects , Male , Folic Acid/blood , Folic Acid/administration & dosage , Maternal Nutritional Physiological Phenomena , Diet/statistics & numerical data , Diet/methods , Infant , Vitamin B 12/blood , Vitamin B 12/administration & dosage , Betaine/administration & dosage , Betaine/blood
3.
Radiol Case Rep ; 19(5): 1753-1757, 2024 May.
Article in English | MEDLINE | ID: mdl-38384702

ABSTRACT

Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome. Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions. We present unusual sonographic findings associated with transient marked proximal fetal bowel dilatation in association with concurrent development of oligohydramnios, in a growth-restricted fetus at 35 weeks' gestation. This case supports that upon observation of dilated loops of fetal bowel, while not negating the potential need for delivery secondary to potential bowel compromise, consideration should be given for observation in anticipation of potential spontaneous resolution of this condition, especially among growth-restricted fetuses with decreased amniotic fluid volume in prematurity.

4.
Nutrients ; 16(2)2024 Jan 22.
Article in English | MEDLINE | ID: mdl-38276566

ABSTRACT

Lutein and its isomer zeaxanthin serve as antioxidants and preserve cognitive function during aging. However, whether lutein/zeaxanthin (L + Z) exposure early in life improves cognitive development of children is rarely explored. It is also unknown whether gestational diabetes mellitus (GDM), characterized by heightened oxidative stress, affects lutein metabolism. This prospective longitudinal cohort study examined the differences in L + Z intake and metabolism, as well as the association between maternal L + Z intake and children's cognitive development in GDM versus non-GDM pregnancies. Seventy-six pregnant women (n = 40 with GDM) were recruited between 25 and 33 weeks of gestation and dietary intakes were recorded. At delivery, cord blood was collected, and 2 years later, the Bayley III developmental test was conducted on a subset of children (n = 38). The results suggest that GDM reduced cord blood lutein levels at birth; L + Z intake during pregnancy was associated with better cognitive (ß = 0.003, p = 0.001) and language (ß = 0.002, p = 0.038) scoring of children at 2 years regardless of GDM status. In conclusion, maternal L + Z intake was positively associated with children's developmental scores, regardless of GDM. More studies are needed to confirm such associations.


Subject(s)
Diabetes, Gestational , Female , Humans , Infant, Newborn , Pregnancy , Cognition , Longitudinal Studies , Lutein , Prospective Studies , Zeaxanthins , Child, Preschool
5.
Radiol Case Rep ; 19(2): 760-762, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38074422

ABSTRACT

Ectopic pregnancies, implantation of a fertilized ovum in any location other than within the endometrial cavity, occur in 1-2% of all pregnancies. Despite current enhanced early diagnosis enabled by serum beta-human choriogonadotropin (hCG) levels and high-resolution ultrasound, this clinical entity continues to account for between 2.7 and 6% of all maternal deaths. The most common site of ectopic implantation is the Fallopian tube (>90% of cases), and less commonly in previous Cesarean scar, ovary, cervix, or the abdomen. Complete tubal abortion refers to a tubal pregnancy having been expelled from the distal portion of the Fallopian tube into the peritoneal cavity and may be associated with either considerable hemorrhage, spontaneous resolution, or rarely serve as an initial nidus for an abdominal pregnancy. We present unusual sonographic findings of a complete tubal abortion in a patient with minimal symptomology.

6.
Radiol Case Rep ; 19(2): 661-664, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38111557

ABSTRACT

The tricuspid valve positioned between the right atrium and right ventricle is composed of 3 leaflets (anterior, posterior, and septal) anchored by a collagenous fibrous annulus, a saddle-shaped, oval structure, providing a firm yet dynamic structural support for the tricuspid valve. The annulus is considered to separate between the right atrium and right ventricle. Structural anomalies of the fetal tricuspid valve are rare and include Ebstein's anomaly, tricuspid atresia, partial absence, unguarded tricuspid orifice (absent leaflets) cleft, double orifice, bicuspid valve and Uhl anomaly (absence of the right ventricular myocardium with an apposing endocardium and epicardium). We present an unusual case in which a prominent peripheral circular structure was noted above the periphery of the fetal tricuspid valve at 31 weeks' gestation. Inflow across the tricuspid valve was unimpaired, with no tricuspid regurgitation. The right atrium appeared normal with a normal functioning foramen ovale, and the entire fetal cardiac anatomy and function were normal with no signs of congestive cardiac failure or fetal hydrops. The prominent non-obstructing circular structure in immediate proximity to the tricuspid valve leaflets was considered to represent a prominent tricuspid annulus. An appropriate for gestational age fetus was delivered at term and neonatal echocardiography was normal. This case emphasizes that normal variations in fetal anatomical structures should always be considered and specifically that unimpaired inflow across the tricuspid valve in diastole is key upon encountering an unusually prominent fetal tricuspid annulus, which may be noted at a considerable distance above the tricuspid leaflets within the right atrium.

7.
Radiol Case Rep ; 18(11): 4057-4061, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37701359

ABSTRACT

Placenta accreta spectrum (PAS) defined by various degrees of abnormally invasive placentation is strongly associated with severe maternal morbidity and maternal mortality, mainly reflecting maternal hemorrhage. Predisposing factors for this condition include: multiparity, placenta previa, previous uterine surgeries (previous curettage, cesarean delivery, and myomectomy), smoking and previous PAS. Prenatal sonographic findings associated with PAS include the presence of placenta previa, loss of the hypoechoic retroplacental sonolucency, myometrial thinning, interruption of the irregularity of the bladder wall, excessive vascularity of the uterovesical plane, placental lacunae, increased placental vascularity, bridging vessels with vascularity extending from the placental bed across the uterine wall into the bladder or other pelvic organs. PAS is very rare among nulliparous patients, especially those without previous uterine surgery. We describe an unusual case of PAS in a nulliparous patient with an unscarred uterus and systemic lupus erythematosus in whom a fundal placenta with PAS and thinned and areas of absent myometrium suspected at midtrimester sonography, sustained uterine atony and severe hemorrhage at delivery, necessitated massive blood transfusion and subtotal hysterectomy. Both mother and infant did well. Pathology confirmed PAS and marked uterine thinning. Although PAS most commonly is associated with placenta previa and the presence of previous cesarean delivery, this case emphasizes the need for alertness of at times subtle prenatal sonographic findings of PAS irrespective of placental location even among nulliparous patients, especially those with systemic lupus erythematosus.

8.
Clin Epigenetics ; 15(1): 137, 2023 08 26.
Article in English | MEDLINE | ID: mdl-37633918

ABSTRACT

BACKGROUND: Gestational diabetes mellitus (GDM), characterized by hyperglycemia that develops during pregnancy, increases the risk of fetal macrosomia, childhood obesity and cardiometabolic disorders later in life. This process has been attributed partly to DNA methylation modifications in growth and stress-related pathways. Nutrients involved with one-carbon metabolism (OCM), such as folate, choline, betaine, and vitamin B12, provide methyl groups for DNA methylation of these pathways. Therefore, this study aimed to determine whether maternal OCM nutrient intakes and levels modified fetal DNA methylation and in turn altered fetal growth patterns in pregnancies with and without GDM. RESULTS: In this prospective study at a single academic institution from September 2016 to June 2019, we recruited 76 pregnant women with and without GDM at 25-33 weeks gestational age and assessed their OCM nutrient intake by diet recalls and measured maternal blood OCM nutrient levels. We also collected placenta and cord blood samples at delivery to examine fetal tissue DNA methylation of the genes that modify fetal growth and stress response such as insulin-like growth factor 2 (IGF2) and corticotropin-releasing hormone (CRH). We analyzed the association between maternal OCM nutrients and fetal DNA methylation using a generalized linear mixed model. Our results demonstrated that maternal choline intake was positively correlated with cord blood CRH methylation levels in both GDM and non-GDM pregnancies (r = 0.13, p = 0.007). Further, the downstream stress hormone cortisol regulated by CRH was inversely associated with maternal choline intake (r = - 0.36, p = 0.021). Higher maternal betaine intake and serum folate levels were associated with lower cord blood and placental IGF2 DNA methylation (r = - 0.13, p = 0.049 and r = - 0.065, p = 0.034, respectively) in both GDM and non-GDM pregnancies. Further, there was an inverse association between maternal betaine intake and birthweight of infants (r = - 0.28, p = 0.015). CONCLUSIONS: In conclusion, we observed a complex interrelationship between maternal OCM nutrients and fetal DNA methylation levels regardless of GDM status, which may, epigenetically, program molecular pathways related to fetal growth and stress response.


Subject(s)
DNA Methylation , Diabetes, Gestational , Humans , Female , Diabetes, Gestational/genetics , Pregnancy , Fetus , Folic Acid/blood , Promoter Regions, Genetic , Prospective Studies
10.
Radiol Case Rep ; 18(5): 2030-2033, 2023 May.
Article in English | MEDLINE | ID: mdl-37006836

ABSTRACT

Reverse diastolic flow of the fetal middle cerebral artery is a rare, yet ominous finding which has been associated with adverse perinatal outcomes including: intracranial hemorrhage, growth restriction, fetal-maternal hemorrhage, severe anemia, hydrops, hepatic anomaly, subsequent stillbirth, and early neonatal death. We report a case in which following notation of a nonreassuring fetal heart rate at 32 weeks' gestation, sonographic documentation of persistent reverse diastolic flow of the fetal middle cerebral artery was noted in association with sonographic findings of vascular placental dysmorphology and an asymptomatic concealed placental abruption. Subsequent fetal heart rate tracing consistent with uteroplacental insufficiency led to immediate Cesarean birth of an anemic yet nonacidotic, nonhypoxic neonate, who did well following management of respiratory distress syndrome and partial exchange transfusion. Placental abruption was confirmed at delivery. Histopathology of the placenta confirmed the presence of localized chorangiomatosis ("wandering" chorangioma). The association of reverse diastolic flow of the fetal middle cerebral artery, placental chorangiomatosis and placental abruption has not been reported previously. We conclude that in the presence of prenatal sonographic findings of placental dysmorphology and or placental abruption, insonation of the fetal middle cerebral artery should be performed to assess the possibility of increased peak systolic velocity and possible reverse diastolic flow, both associated with fetal anemia and increased likelihood of an adverse perinatal outcome.

11.
Int J Womens Health ; 14: 1499-1518, 2022.
Article in English | MEDLINE | ID: mdl-36325393

ABSTRACT

First-trimester septated cystic hygroma occurs in approximately 1 in 268 pregnancies and has long been associated with a markedly increased risk of fetal aneuploidy and, among euploid fetuses, an increased risk of structural anomalies primarily affecting the cardiac and skeletal systems. Invasive prenatal diagnosis - chorionic villus sampling and/or amniocentesis - encompasses the time-honored clinical tools for the next step in management following prenatal sonographic diagnosis of first-trimester septated cystic hygroma. Currently, prenatal cell-free DNA (cfDNA) screening for fetal aneuploidy with select microdeletions is gradually replacing the considerably less sensitive, and labor-intensive combined first-trimester screening. These new technologies have opened potential new venues in the clinical management of this ominous late first-trimester sonographic diagnosis. Advances in cfDNA technologies are now permitting detection of chromosomal copy number variants (CNV) larger than 7Mb across genome and select serious single-gene disorders (mainly impacting skeletal and neurological development), affecting quality of life and may benefit from medical and/or surgical management. This commentary will address the available non-invasive prenatal screening technologies, which clearly enhance immediate genetic analysis modalities applicable in the presence of the complex sonographic finding of first-trimester septated cystic hygroma.

12.
Radiol Case Rep ; 17(12): 4850-4854, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36247699

ABSTRACT

An interstitial pregnancy is an ectopic pregnancy located within the proximal intramural segment of the Fallopian tube traversing the myometrium. This type of ectopic pregnancy is relatively rare, occurring in approximately 1%-3% of all ectopic pregnancies. Given the myometrial mantle surrounding the gestational sac, which is considerably thicker than in other tubal pregnancies, patients with interstitial pregnancies classically manifest symptoms later in gestation. Thus, there is an increased risk of life-threatening intraperitoneal hemorrhage upon rupture of the myometrium encompassing the pregnancy. We present an unusual case of early sonographic diagnosis of an interstitial pregnancy in an asymptomatic patient at 7 and 3/7 weeks' gestation, discuss predisposing factors, hallmarks of sonographic diagnosis, and review the literature regarding available clinical management modalities. With the increasing application of point of care ultrasound (POCUS) by emergency room physicians and other providers in outpatient facilities, our case emphasizes both the importance of correct sonographic identification of interstitial pregnancy and the clinical importance of uniform early first-trimester sonography, preferably no later than 7-8 weeks' gestation.

13.
Radiol Case Rep ; 17(11): 4291-4293, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36132065

ABSTRACT

Small bowel atresia constitutes congenital obstruction of the lumen of the duodenum, jejunum or ileum, and is one of the most common causes of neonatal bowel obstruction with a reported incidence of between 1.3 and 2.8 per 10,1000 live births. Complete absence of the small bowel, or near total jejuno-ileal atresia (in the absence of malrotation or gastroschisis), are extremely rare. Mid-trimester prenatal sonographic finding of dilated fetal bowel led to the finding of interstitial 8q21.13q21.2 duplication. Following delivery at 32 weeks' gestation, at laparotomy almost complete small bowel atresia was noted. Anastomosis between the existing small bowel and colon was performed. At 7 months of age, the infant continued to receive total parenteral nutrition supplemented by gastrostomy and oral-spoon formula feeding, and weighed 7 kg (50th centile). This is the first report of the association interstitial 8q21.13q21.2 duplication, which includes OMIM genes (RALYL, LRRCC1, and E2F5) and extensive small bowel atresia.

14.
J Community Health ; 47(4): 635-640, 2022 08.
Article in English | MEDLINE | ID: mdl-35460062

ABSTRACT

COVID-19 is a novel coronavirus with data suggesting a more serious clinical course in pregnancy. We aimed to assess changes in knowledge, behaviors, and intentions of pregnant women regarding COVID-19. This was a cross-sectional survey study of 58 and 77 predominantly African-American and Afro-Caribbean pregnant patients presenting for prenatal care in Brooklyn, NY in 2020 (during the first surge of the pandemic) and 2021, respectively. Descriptive and inferential statistics were performed. Many beliefs and intentions were unchanged between 2020 and 2021 (e.g. believing pregnant women were at higher risk of COVID-19 infection and subsequent ICU admission due to pregnancy, having the desire to breastfeed, among others). Other beliefs and behaviors changed between 2020 and 2021 (fewer women believed they received information from their provider regarding COVID-19 and fewer would miss a prenatal visit for fear of COVID-19 contagion). Patients' behaviors and intended behaviors in both 2020 and 2021 were directly influenced by their beliefs, many of which were based on unsupported data regarding COVID-19 and pregnancy (ie: babies were at increased risk of being born with congenital malformation following a mother's COVID-19 infection). Patients who held these beliefs were more likely to say that they did not attend prenatal visits and did not receive information from their provider regarding COVID-19. Knowledge of patient beliefs is useful for structuring care as the pandemic evolves. This study demonstrates that pregnant patients make decisions regarding behaviors based on beliefs grounded in misinformation. Accordingly, it is the provider's responsibility to ensure that beliefs regarding COVID-19 are based in fact, so patients can make informed decisions.


Subject(s)
COVID-19 , Cross-Sectional Studies , Female , Humans , Pandemics , Pregnancy , Pregnant Women , Prenatal Care , Surveys and Questionnaires
15.
J Ultrasound ; 25(3): 645-647, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35001324

ABSTRACT

Prenatal sonographic depiction of congenital vertical talus (rocker bottom feet), describing a prominent calcaneus and rounded convex appearance of the ventral aspect of the foot, has been reported with fetal Trisomies 18, 13, 9 HOXD10 mutations and recently 2q13 microdeletion. We present a 24 year old in whom mid-trimester sonographic finding of isolated bilateral rocker bottom feet led to diagnosis of 7q11.23 microdeletion-Williams syndrome. This association has not been reported previously. This case emphasizes the critical assessment of detail microarray upon prenatal sonographic notation of abnormal structural fetal features.


Subject(s)
Flatfoot , Williams Syndrome , Adult , Female , Humans , Pregnancy , Prenatal Diagnosis , Ultrasonography, Prenatal , Williams Syndrome/diagnostic imaging , Williams Syndrome/genetics , Young Adult
16.
Int J Womens Health ; 13: 939-971, 2021.
Article in English | MEDLINE | ID: mdl-34703323

ABSTRACT

The umbilical cord constitutes a continuation of the fetal cardiovascular system anatomically bridging between the placenta and the fetus. This structure, critical in human development, enables mobility of the developing fetus within the gestational sac in contrast to the placenta, which is anchored to the uterine wall. The umbilical cord is protected by unique, robust anatomical features, which include: length of the umbilical cord, Wharton's jelly, two umbilical arteries, coiling, and suspension in amniotic fluid. These features all contribute to protect and buffer this essential structure from potential detrimental twisting, shearing, torsion, and compression forces throughout gestation, and specifically during labor and delivery. The arterial components of the umbilical cord are further protected by the presence of Hyrtl's anastomosis between the two respective umbilical arteries. Abnormalities of the umbilical cord are uncommon yet include excessively long or short cords, hyper or hypocoiling, cysts, single umbilical artery, supernumerary vessels, rarely an absent umbilical cord, stricture, furcate and velamentous insertions (including vasa previa), umbilical vein and arterial thrombosis, umbilical artery aneurysm, hematomas, and tumors (including hemangioma angiomyxoma and teratoma). This commentary will address current perspectives of prenatal sonography of the umbilical cord, including structural anomalies and the potential impact of future imaging technologies.

17.
Open Forum Infect Dis ; 8(8): ofab375, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34377732

ABSTRACT

BACKGROUND: Early in the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, before the routine availability and/or use of personal protective equipment, health care workers were understandably concerned. Our aim was to explore health care workers' attitudes toward patients infected with SARS-CoV-2 at the time of the nation's first surge in 2 highly affected hospitals in New York. METHODS: We performed a cross-sectional, self-administered survey study of health care workers. The survey consisted of 17 multiple-choice questions including demographic information, ethics, and willingness to care for patients with SARS-CoV-2 infection. Subgroup analyses were performed using the Fisher exact test. RESULTS: Of 340 health care workers approached, 338 (99.4%) consented to the survey; 163 (48.7%) were registered nurses and 160 (48.3%) lived with children. While 326 (97.3%) workers were concerned about putting their family/coworkers at risk of infection after caring for a patient with SARS-CoV-2, only 30 (8.9%) were unwilling to treat a patient with SARS-CoV-2 infection. Registered nurses were more likely than other health care workers to think it was ethical to refuse care for SARS-CoV-2-infected patients, worried more often about contracting infection, and felt that SARS-CoV-2 added to their stress level (P = .009, P = .018, P < .001, respectively). A similar contrast was seen when comparing workers who live with children with those who did not. CONCLUSIONS: Levels of stress and concern were extremely high. In spite of that, the overwhelming majority of workers were willing to treat patients with SARS-CoV-2 infection. Registered nurses and health care workers who live with children were more likely to think it is ethical to refuse care for SARS-CoV-2-infected patients.

20.
J Clin Ultrasound ; 49(6): 622-624, 2021 Jul.
Article in English | MEDLINE | ID: mdl-33778969

ABSTRACT

Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene. Findings indicate this gene to be dosage-sensitive and likely involved in the phenotypes of 16p13.3 microduplication syndrome. We describe the incidental finding of 16p13.3 microduplication in a fetus with mid-trimester sonographic examination showing absent nasal bone and transient unilateral hydronephrosis.


Subject(s)
Chromosome Duplication , Chromosomes, Human, Pair 16/genetics , Hydronephrosis/genetics , Nasal Bone/abnormalities , Pregnancy Trimester, Second , Female , Humans , Male , Phenotype , Pregnancy , Ultrasonography, Prenatal
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