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Fetal nasal hypoplasia

Motoki Katsube, Shigehito Yamada, Yutaka Yamaguchi, Tetsuya Takakuwa, Akira Yamamoto, Hirohiko Imai, Atsushi Saito, Akinobu Shimizu, Shigehiko Suzuki
BACKGROUND: Congenital midfacial hypoplasia often requires intensive treatments and is a typical condition for the Binder phenotype and syndromic craniosynostosis. The growth trait of the midfacial skeleton during the early fetal period has been assumed to be critical for such an anomaly. However, previous embryological studies using 2-dimensional analyses and specimens during the late fetal period have not been sufficient to reveal it. OBJECTIVE: To understand the morphogenesis of the midfacial skeleton in the early fetal period via 3-dimensional quantification of the growth trait and investigation of the developmental association between the growth centers and midface...
February 17, 2019: Cleft Palate-craniofacial Journal
L Hou, X X Wang, H L Jiang, T Zhang, L Li, W Y Zhang, X Wang
Objectives: To explore the chromosomal analysis for fetuses with nasal bone absence or hypoplasia. Methods: This was a retrospective study on 29 pregnancies nasal bone absence or hypoplasia which underwent prenatal diagnosis, including chorionic villi (CV), amniotic fluid or cordocentesis.The indication of the procedures and results were evaluated. Result: Fifteen (51.7%, 15/29) of chromosome abnormities were diagnosed with indication of fetal nasal bone absence or hypoplasia, including eight with trisomy 21, two with trisomy 13, two with X chromosome aneuploidy and three with pathogenic copy number variations (CNVs) respectively...
November 20, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Rodrigo Ruano, Denise B Klinkner, Karthik Balakrishnan, Victoria A Novoa Y Novoa, Norman Davies, Dean D Potter, William A Carey, Christopher E Colby, Amy B Kolbe, Katherine W Arendt, Leal Segura, Hans P Sviggum, Maureen A Lemens, Abimbola Famuyide, Andre Terzic
OBJECTIVE: To introduce the prenatal regenerative medicine service at Mayo Clinic for fetal endoscopic tracheal occlusion (FETO) care for severe congenital diaphragmatic hernia (CDH). PATIENTS AND METHODS: Two cases of prenatal management of severe CDH with FETO between January and August 2017 are reported. Per protocol, FETO was offered for life-threatening severe CDH at between 26 and 29 weeks' gestation. Regenerative outcome end point was fetal lung growth. Gestational age at procedure and maternal and perinatal outcomes were additional monitored parameters...
June 2018: Mayo Clinic Proceedings
Ana R Sousa, Rita Barreira, Edmundo Santos
Fetuses exposed to warfarin during pregnancy are at an increased risk of developing an embryopathy known as fetal warfarin syndrome or warfarin embryopathy. The most consistent anomalies are nasal hypoplasia and stippling of vertebrae or bony epiphyses. Management of pregnant patients on anticoagulation is challenging. Current guidelines suggest the use of warfarin if the therapeutic dose is ≤5 mg/day. We report the case of a newborn with signs of warfarin embryopathy born from a mother anticoagulated with warfarin due to mechanical mitral and aortic heart valves...
April 7, 2018: BMJ Case Reports
Hamizah Mohd Yunos, Andrew Green
INTRODUCTION: Fetal valproate syndrome was first described in 1984. Valproic acid crosses the placenta and can potentially lead to major congenital malformation, dysmorphism and neurodevelopmental disorder. METHODS: A retrospective study of 29 cases of FVS diagnosed by geneticists from 1995 to 2016. The cases were diagnosed based on criteria of fetal anticonvulsant syndrome. RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge...
November 2018: Irish Journal of Medical Science
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
A Vimercati, A Chincoli, A C de Gennaro, V DʼAddario, E Cicinelli
This paper highlights the utility of 2D and 3D ultrasonography in the prenatal diagnosis of facial dysmorphisms suggestive of very rare syndromes such as 3-M syndrome. Two pregnant women at risk for fetal skeletal dysplasias were referred to our clinic for 2D/3D ultrasound scan in the second trimester of pregnancy. Only one of the patients had a familial history of 3-M syndrome. Karyotyping and genetic testing of abortion material were performed in both cases. 2D ultrasonography revealed growth retardation of the long bones in both cases...
July 2016: Geburtshilfe und Frauenheilkunde
Carlos Menezes, Isabel Ribeiro, Pedro Coelho, Catarina Mateus, Carla Teixeira
INTRODUCTION: Optic disc hypoplasia is a common feature in fetal alcohol syndrome. Thus, we aimed to evaluate the optic disc morphology changes and the peripapillary retinal nerve fiber layer thickness in these patients. MATERIAL AND METHODS: We performed spectral-domain optical coherence tomography in a cohort of 11 patients (22 eyes) with fetal alcohol syndrome and in an age-matched control group. We evaluated optic nerve head parameters (optic disc area and diameter, rim area, cup/disc horizontal and vertical ratios) and peripapillary retinal nerve fiber layer thickness...
April 2016: Acta Médica Portuguesa
Bárbara Ribeiro, Joana Igreja, Miguel Gonçalves-Rocha, Alexandra Cadilhe
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed...
June 21, 2016: BMJ Case Reports
A Shrestha, S Pradhan, A S Tuladhar, S Pradhan, B Yadav, R Acharya, R Pathak, B Thapa
The fetal nasal bone length (FNBL) is a recent sonographic marker included in second trimester genetic sonography which varies with race and ethnicity. The importance of measuring FNBL is in the prenatal diagnosis of Down's syndrome (DS), the most common chromosomal abnormality. Nasal bone hypoplasia or absence is one of the frequent features of DS. Different studies conducted in different parts of the world have established FNBL in different races. But, reference values for normal fetal nasal bone length are yet to be established for Nepalese population...
December 2014: Nepal Medical College Journal: NMCJ
Panayiota Papasozomenou, Apostolos P Athanasiadis, Menelaos Zafrakas, Eleftherios Panteris, Themistokles Mikos, Angelos Daniilidis, Aristoteles Loufopoulos, Efstratios Assimakopoulos, Basil C Tarlatzis
OBJECTIVE: To evaluate different methods of defining fetal nasal bone hypoplasia in the second trimester for the detection of trisomy 21. METHODS: Prospective study in Greek women undergoing anomaly scan between 18 + 0 and 23 + 6 weeks. The following methods of defining nasal bone hypoplasia were evaluated, either as a single marker or in combination with others: (1) BPD to nasal bone length (NBL) ratio; (2) multiples of the median (MoM) of NBL, according to normal curves from a Greek population; (3-4) NBL < 2...
October 2016: Journal of Maternal-fetal & Neonatal Medicine
Andrew S Lane, Jennifer L Stallworth, Kacey Y Eichelberger, Kenneth F Trofatter
A 21-year-old primigravida had a pregnancy complicated by hyperemesis gravidarum (HG) beginning at 7-week gestation. Despite medical therapy, she lost 18% of her prepregnancy weight. Early ultrasound at 14 weeks demonstrated a flattened facial profile with nasal hypoplasia (Binder phenotype) consistent with vitamin K deficiency from HG. She had a percutaneous endoscopic gastrojejunostomy tube placed for enteral feeding at 15-week gestation. At repeated anatomy ultrasound at 21-week gestation, delivery, and postnatal pediatric genetics exam, nasal hypoplasia was consistent with vitamin K deficiency embryopathy from HG...
2015: Case Reports in Obstetrics and Gynecology
Recep Has, Esra Gilbaz Akel, Ibrahim H Kalelioglu, Ozlem Dural, Cenk Yasa, Aytül Corbacioglu Esmer, Atıl Yuksel, Alkan Yildirim, Lemi Ibrahimoglu, Hayri Ermis
PURPOSE: The aim of this prospective observational study was to identify the best method for use in diagnosing fetal nasal bone (NB) hypoplasia in the second trimester as a means of predicting trisomy 21 (Down syndrome). METHODS: The NB length (NBL), NBL percentiles, and NBL multiple-of-median (MoM) values and the biparietal diameter-to-NBL ratios were calculated and compared in an attempt to identify the best predictive method and most appropriate cutoff value...
February 2016: Journal of Clinical Ultrasound: JCU
A Daniilidis, D Balaouras, N Psarra, D Chitzios, M Tzafettas, G Balaouras, N Vrachnis
Increased nuchal translucency (NT) thickness is present in 40% of fetuses with diaphragmatic hernia, including 80% of those that result in neonatal death and in 20% of the survivors. A 33-year-old nulliparous woman had first trimester scan at 12 weeks. The fetus had a NT of 2.3 mm, normal ductus venosus (DV), and tricuspid doppler and present nasal bone. Pregnancy-associated plasma protein A (PAPP-A) was 0.59 MoM and beta-human chorionic gonadotropin (b-hCG) 2.56 MoM. The couple did not opt for chorionic villous sampling (CVS) and repeat ultrasound examination was advised...
2015: Clinical and Experimental Obstetrics & Gynecology
A Cansu, H Ozgur, S Guven, G Dinc, H Dinc
PURPOSE OF INVESTIGATION: To develop a nomogram for estimating nasal bone length (NBL) at 11(+0) - 13(+6) weeks of gestation in 554 consecutive cases and to determine the value of NBL measurement in screening for chromosomal abnormalities. MATERIALS AND METHODS: NBL and crown-rump length (CRL) were examined in 554 fetuses at 11(+0) - 13(+6) weeks' gestation. A nomogram for NBL was developed with data from 479 healthy fetuses in which fetal profile examination was possible...
2014: Clinical and Experimental Obstetrics & Gynecology
F I Vos, E A P de Jong-Pleij, M Bakker, E Tromp, K O Kagan, C M Bilardo
OBJECTIVES: To investigate the use of the maxilla-nasion-mandible (MNM) angle and fetal profile (FP) line to assess the degree of midfacial hypoplasia in Down-syndrome fetuses in the second and third trimesters of pregnancy. METHODS: The MNM angle and FP line were measured retrospectively in stored two-dimensional images or three-dimensional volumes of fetuses with Down syndrome. Data collected from January 2006 to July 2013 were retrieved from the digital databases of participating units...
August 2015: Ultrasound in Obstetrics & Gynecology
P Papasozomenou, A P Athanasiadis, M Zafrakas, E Panteris, A Loufopoulos, E Assimakopoulos, B C Tarlatzis
OBJECTIVES: To compare two-dimensional with three-dimensional ultrasound evaluation of the fetal nasal bone in the second trimester. METHODS: A prospective, non-interventional study was conducted, in 55 singleton fetuses, between 18 and 24 weeks' gestation. Fetal nasal bone length was measured in the midsagittal plane by two-dimensional imaging and in the midsagittal and coronal plane with three-dimensional ultrasound. All three measurements were compared with one another using one-way repeated samples-measures ANOVA and paired samples t-test...
August 2015: Journal of Maternal-fetal & Neonatal Medicine
Aarthi Srinivasan, Debra Wright
PATIENT: Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples MEDICATION: - Clinical Procedure: - Specialty: Pediatrics and Neonatology. OBJECTIVE: Congenital defects/diseases...
2014: American Journal of Case Reports
Bandeppa H Narayani, Prathima Radhakrishnan
OBJECTIVE: The purpose of this study was to establish an Indian reference for normal fetal nasal bone length at 16-26 weeks of gestation. METHODS: The fetal nasal bone was measured by ultrasound in 2,962 pregnant women at 16-26 weeks of gestation from 2004 to 2009 by a single operator, who performed three measurements for each woman when the fetus was in the midsagittal plane and the nasal bone was between a 45 and 135° angle to the ultrasound beam. All neonates were examined after delivery to confirm the absence of congenital abnormalities...
August 2013: Journal of Obstetrics and Gynaecology of India
Xiao-mei Shi, Qun Fang, Bao-jiang Chen, Hong-ning Xie, Ying-jun Xie, Jun-hong Chen, Jian-zhu Wu
OBJECTIVE: To investigate the clinical value of ultrasound markers in screening fetal trisomy 21. METHODS: From Jan. 2001 to Dec. 2011, a retrospective study about sonographic information of 138 fetuses diagnosed as trisomy 21 was taken in the First Affiliated Hospital of Sun Yat-sen University. All fetuses were divided into 3 groups: isolated ultrasound markers, non-isolated ultrasound markers, and isolated structural malformations or other abnormalities. The relationship between trisomy 21 and ultrasound markers as well as structural anomalies or other abnormalities was analyzed...
February 2013: Zhonghua Fu Chan Ke za Zhi
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