Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity.

Abstract:

:BACKGROUND: Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. CASE PRESENTATION: A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. CONCLUSION: The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.

authors

Aslan H,Karaca N,Basaran S,Ermis H,Ceylan Y

doi

10.1186/1471-2393-3-1

keywords:

subject

Has Abstract

pub_date

2003-01-24 00:00:00

pages

1

issue

1

issn

1471-2393

journal_volume

3

pub_type

杂志文章
  • Clinician-centred interventions to increase vaginal birth after caesarean section (VBAC): a systematic review.

    abstract:BACKGROUND:The number of caesarean sections (CS) is increasing globally, and repeat CS after a previous CS is a significant contributor to the overall CS rate. Vaginal birth after caesarean (VBAC) can be seen as a real and viable option for most women with previous CS. To achieve success, however, women need the suppor...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,评审

    doi:10.1186/s12884-015-0441-3

    authors: Lundgren I,Smith V,Nilsson C,Vehvilainen-Julkunen K,Nicoletti J,Devane D,Bernloehr A,van Limbeek E,Lalor J,Begley C

    更新日期:2015-02-05 00:00:00

  • Rare heterotopic pregnancy after frozen embryo transfer: a case report and literature review.

    abstract:BACKGROUND:Heterotopic pregnancy occurred after frozen embryo transfer with two D3 embryos, and the case had a history of bilateral salpingectomy due to salpingocyesis. An ectopic heterotopic pregnancy was implanted in the left psoas major muscle, which has not been previously reported. CASE PRESENTATION:A 33-year-old...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03214-1

    authors: Wang X,Ma D,Zhang Y,Chen Y,Zhang Y,Liu Z,Bi X,Wu X,Fan J

    更新日期:2020-09-17 00:00:00

  • Factors influencing utilisation of maternal health services by adolescent mothers in Low-and middle-income countries: a systematic review.

    abstract:BACKGROUND:Adolescent mothers aged 15-19 years are known to have greater risks of maternal morbidity and mortality compared with women aged 20-24 years, mostly due to their unique biological, sociological and economic status. Nowhere Is the burden of disease greater than in low-and middle-income countries (LMICs). Unde...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,评审

    doi:10.1186/s12884-017-1246-3

    authors: Banke-Thomas OE,Banke-Thomas AO,Ameh CA

    更新日期:2017-02-16 00:00:00

  • "An unnecessary cut?" multilevel health systems analysis of drivers of caesarean sections rates in Italy: a systematic review.

    abstract:BACKGROUND:Improvements in medical technologies have seen over-medicalization of childbirth. Caesarean section (CS) is a lifesaving procedure proven effective in reducing maternal and perinatal mortality across the globe. However, as with any medical procedure, the CS intrinsically carries some risk to its beneficiarie...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03462-1

    authors: Laurita Longo V,Odjidja EN,Beia TK,Neri M,Kielmann K,Gittardi I,Di Rosa AI,Boldrini M,Melis GB,Scambia G,Lanzone A

    更新日期:2020-12-10 00:00:00

  • An interview study of pregnant women who were provided with indoor air quality measurements of second hand smoke to help them quit smoking.

    abstract:BACKGROUND:Maternal smoking can cause health complications in pregnancy. Particulate matter (PM2.5) metrics applied to second hand smoke (SHS) concentrations provide indoor air quality (IAQ) measurements and have been used to promote smoking behaviour change among parents of young children. Here, we present the qualita...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-016-1062-1

    authors: Morgan H,Treasure E,Tabib M,Johnston M,Dunkley C,Ritchie D,Semple S,Turner S

    更新日期:2016-10-12 00:00:00

  • Is minimally invasive parathyroid surgery an option for patients with gestational primary hyperparathyroidism?

    abstract:BACKGROUND:Gestational primary hyperparathyroidism is associated with serious maternal and neonatal complications, which require prompt surgical treatment. Minimally invasive parathyroidectomy reduces pain, improves cosmesis and may achieve cure rates comparable to traditional open bilateral neck exploration. We report...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-13-130

    authors: Bendinelli C,Nebauer S,Quach T,Mcgrath S,Acharya S

    更新日期:2013-06-11 00:00:00

  • Psychosocial and obstetric determinants of women signalling distress during Edinburgh Postnatal Depression Scale (EPDS) screening in Sydney, Australia.

    abstract:BACKGROUND AND OBJECTIVES:The perinatal period presents a high-risk time for development of mood disorders. Australia-wide universal perinatal care, including depression screening, make this stage amenable to population-level preventative approaches. In a large cohort of women receiving public perinatal care in Sydney,...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,多中心研究

    doi:10.1186/s12884-019-2565-3

    authors: Khanlari S,Eastwood J,Barnett B,Naz S,Ogbo FA

    更新日期:2019-11-07 00:00:00

  • A qualitative investigation of optimal perinatal health: the perspectives of south Asian grandmothers living in southern Ontario, Canada.

    abstract:BACKGROUND:Perinatal health-seeking behaviours are influenced by various factors, including personal beliefs. South Asian women, who often live within a wide kinship system, can be influenced by the advice and guidance of their mothers and/or mothers-in-law. METHODS:To explore the cultural health perceptions of South ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-2762-0

    authors: Kandasamy S,Anglin R,Gaind L,Desai D,Wahi G,Gupta M,Anand SS

    更新日期:2020-02-17 00:00:00

  • A case of successful maintained pregnancy after neoadjuvant chemotherapy plus radical surgery for stage IB3 cervical cancer diagnosed at 13 weeks.

    abstract:BACKGROUND:Cervical cancer during pregnancy is rare. The management for stage IB3 during pregnancy remains unclear and challenging. We report a successful preserved pregnancy in a stage IB3 patient who was treated with neoadjuvant chemotherapy (NACT) plus radical surgery. CASE PRESENTATION:A 36-year-old pregnant woman...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-02895-y

    authors: Guo Y,Zhang D,Li Y,Wang Y

    更新日期:2020-04-07 00:00:00

  • Design of FitFor2 study: the effects of an exercise program on insulin sensitivity and plasma glucose levels in pregnant women at high risk for gestational diabetes.

    abstract:BACKGROUND:Pregnancy is a period in the life of women that is often associated with decreased daily physical activity and/or exercise. However, maintaining adequate levels of daily physical activity during pregnancy is important for mother and child. Studies suggest that moderate daily physical activity and exercise du...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/1471-2393-9-1

    authors: Oostdam N,van Poppel MN,Eekhoff EM,Wouters MG,van Mechelen W

    更新日期:2009-01-05 00:00:00

  • Does domestic violence during pregnancy influence the beginning of complementary feeding?

    abstract:BACKGROUND:This study investigate the influence of domestic violence against pregnant women on early complementary feeding and associated factors. METHODS:A longitudinal observational study was conducted with a convenience sample recruited from three public hospitals in Porto Alegre, Rio Grande do Sul, Brazil. Data on...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03144-y

    authors: Caprara GL,Bernardi JR,Bosa VL,da Silva CH,Goldani MZ

    更新日期:2020-08-05 00:00:00

  • Identification of barriers and facilitators for optimal cesarean section care: perspective of professionals.

    abstract:BACKGROUND:The cesarean section (CS) rate has increased over recent decades with poor guideline adherence as a possible cause. The objective of this study was to explore barriers and facilitators for delivering optimal care as described in clinical practice guidelines. METHODS:Key recommendations from evidence-based g...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-017-1416-3

    authors: Melman S,Schreurs RHP,Dirksen CD,Kwee A,Nijhuis JG,Smeets NAC,Scheepers HCJ,Hermens RPMG

    更新日期:2017-07-14 00:00:00

  • Risk factors for severe postpartum hemorrhage: a case-control study.

    abstract:BACKGROUND:In high-income countries, the incidence of severe postpartum hemorrhage (PPH) has increased. This has important public health relevance because severe PPH is a leading cause of major maternal morbidity. However, few studies have identified risk factors for severe PPH within a contemporary obstetric cohort. ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-016-1217-0

    authors: Nyfløt LT,Sandven I,Stray-Pedersen B,Pettersen S,Al-Zirqi I,Rosenberg M,Jacobsen AF,Vangen S

    更新日期:2017-01-10 00:00:00

  • Intraclass correlation coefficients in the Brazilian Network for Surveillance of Severe Maternal Morbidity study.

    abstract:BACKGROUND:The purpose of the study was to evaluate intraclass correlation coefficients (ICC) of variables concerning personal characteristics, structure, outcome and process in the Brazilian Network for Surveillance of Severe Maternal Morbidity study conducted to identify severe maternal morbidity/near miss cases usin...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2393-12-101

    authors: Haddad SM,Sousa MH,Cecatti JG,Parpinelli MA,Costa ML,Souza JP,Brazilian Network for Surveillance of Severe Maternal Morbidity Group.

    更新日期:2012-09-21 00:00:00

  • Vitamin D levels and perinatal depressive symptoms in women at risk: a secondary analysis of the mothers, omega-3, and mental health study.

    abstract:BACKGROUND:Vitamin D insufficiency may be associated with depressive symptoms in non-pregnant adults. We performed this study to evaluate whether low maternal vitamin D levels are associated with depressive symptoms in pregnancy. METHODS:This study was a secondary analysis of a randomized trial designed to assess whet...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12884-016-0988-7

    authors: Williams JA,Romero VC,Clinton CM,Vazquez DM,Marcus SM,Chilimigras JL,Hamilton SE,Allbaugh LJ,Vahratian AM,Schrader RM,Mozurkewich EL

    更新日期:2016-08-03 00:00:00

  • Geophagy practices and the content of chemical elements in the soil eaten by pregnant women in artisanal and small scale gold mining communities in Tanzania.

    abstract:BACKGROUND:Geophagy, a form of pica, is the deliberate consumption of soil and is relatively common across Sub-Saharan Africa. In Tanzania, pregnant women commonly eat soil sticks sold in the market (pemba), soil from walls of houses, termite mounds, and ground soil (kichuguu). The present study examined geophagy pract...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-14-144

    authors: Nyanza EC,Joseph M,Premji SS,Thomas DS,Mannion C

    更新日期:2014-04-15 00:00:00

  • Mode of birth after caesarean section: individual prediction scores using Scottish population data.

    abstract:BACKGROUND:Rising caesarean section (CS) rates are a global health concern. Contemporary data indicates that almost 50% of CS are electively performed, with a high proportion of these being a repeat procedure. Vaginal birth after caesarean (VBAC) is recognised as a safe way to give birth in developed countries. UK nati...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-019-2226-6

    authors: Denham SH,Humphrey T,deLabrusse C,Dougall N

    更新日期:2019-02-28 00:00:00

  • Multicystic encephalomalacia and gastrointestinal injury following single fetal death in first trimester and subsequent fetofetal transfusion syndrome in a monochorionic triplet pregnancy: a case report.

    abstract:BACKGROUND:Monochorionic multifetal pregnancies are at increased risk of adverse perinatal outcome because of placental vascular anastomoses. We present a case of multicystic encephalomalacia and gastrointestinal injury in two surviving fetuses following single fetal death in first trimester and subsequent fetofetal tr...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-019-2459-4

    authors: So PL,Li KW,Yeung TW,Sin WK

    更新日期:2019-08-27 00:00:00

  • Impact of history of myomectomy on preterm birth risk in women with a leiomyomatous uterus: a propensity score analysis.

    abstract:BACKGROUND:To evaluate if women with a history of myomectomy have a modified preterm birth risk compared to women with myomas during pregnancy. METHODS:Retrospective cohort study including all women with a history of myomectomy (operated group) or uterine myomas during pregnancy (unoperated group) who delivered in a t...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03413-w

    authors: Rault E,Delorme P,Goffinet F,Girault A

    更新日期:2020-11-23 00:00:00

  • Vasoactive agents for the prediction of early- and late-onset preeclampsia in a high-risk cohort.

    abstract:BACKGROUND:To evaluate the soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF), and sFlt-1/PlGF ratio for the prediction of early- and late-onset preeclampsia in a high-risk cohort. METHODS:We studied serial serum samples collected prospectively at 12+0-14+0, 18+0-20+0, and 26+0-28+0 weeks+days...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-13-110

    authors: Villa PM,Hämäläinen E,Mäki A,Räikkönen K,Pesonen AK,Taipale P,Kajantie E,Laivuori H

    更新日期:2013-05-12 00:00:00

  • The Mother-Newborn Skin-to-Skin Contact Questionnaire (MSSCQ): development and psychometric evaluation among Iranian midwives.

    abstract:BACKGROUND:Despite the benefits of mother-newborn skin-to-skin contact immediately after birth, it has not been universally implemented as routine care for healthy term neonates. Midwifes are the first person to contact the neonate after birth. However, there is evidence that many midwives do not perform mother-newborn...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-14-85

    authors: Nahidi F,Tavafian SS,Heidarzadeh M,Hajizadeh E,Montazeri A

    更新日期:2014-02-24 00:00:00

  • Differences in maternal characteristics and pregnancy outcomes between syphilitic women with and without partner coinfection.

    abstract:BACKGROUND:Partner infection is a significant factor in preventing mother-to-child syphilis transmission. We compared pregnancy outcomes between syphilis discordant and syphilis concordant couples. METHODS:We conducted a retrospective study among 3076 syphilis-positive women who received syphilis screening together wi...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-019-2569-z

    authors: Zhang XH,Chen YM,Sun Y,Qiu LQ,Chen DQ

    更新日期:2019-11-27 00:00:00

  • Does cultural practice affects neonatal survival- a case control study among low birth weight babies in Aceh Province, Indonesia.

    abstract:BACKGROUND:Cultural practice have often overlooked when providing maternal and child health care services. Low birth weight is the second cause of neonatal mortality in the world but it is a major factor in a developing country such as Indonesia. The purpose of this study is to predict the neonatal mortality among low ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-14-342

    authors: Sutan R,Berkat S

    更新日期:2014-09-30 00:00:00

  • Recombinant human relaxin versus placebo for cervical ripening: a double-blind randomised trial in pregnant women scheduled for induction of labour.

    abstract:BACKGROUND:Nonclinical studies indicate that the hormone relaxin is a good candidate for a safe cervical ripening agent that does not cause uterine contractions. METHODS:This Phase II study (conducted November 2, 2005-October 20, 2006) was a randomised, double blind, placebo controlled trial testing 24-h intravenous i...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12884-016-1046-1

    authors: Weiss G,Teichman S,Stewart D,Nader D,Wood S,Breining P,Unemori E

    更新日期:2016-09-05 00:00:00

  • Women's experiences of personalised support for asthma care during pregnancy: A systematic review of the literature.

    abstract:BACKGROUND:Asthma and pregnancy are both sources of anxiety for women. Although there has been a focus on physiological management of asthma and pregnancy, there has been little research on the impact that personalised support can have on asthma care during pregnancy. This systematic review and narrative synthesis of t...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,评审

    doi:10.1186/s12884-017-1241-8

    authors: Williamson GR,O'Connor A,Kayleigh EJ

    更新日期:2017-02-20 00:00:00

  • A comparison of beliefs about exercise during pregnancy between Chinese and Australian pregnant women.

    abstract:BACKGROUND:Despite the well-established benefits of exercise during pregnancy, many women remain inactive. This may be related, in part, to women's beliefs about exercise in pregnancy, which are likely influenced by cultural background. Accordingly, the aim of this study was to compare attitudes, subjective norms, and ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-015-0734-6

    authors: Guelfi KJ,Wang C,Dimmock JA,Jackson B,Newnham JP,Yang H

    更新日期:2015-12-22 00:00:00

  • Barriers to maternal retention in HIV care in Ghana: key differences during pregnancy and the postpartum period.

    abstract:BACKGROUND:Maternal retention in HIV care is lower for women in the postpartum period than during pregnancy, but the reasons are poorly understood. We examined key differences in barriers to retention in HIV care during and after pregnancy. METHODS:We conducted semi-structured, in-depth interviews with 30 postpartum w...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-020-03067-8

    authors: Sakyi KS,Lartey MY,Kennedy CE,Dension JA,Mullany LC,Owusu PG,Sacks E,Hurley EA,Surkan PJ

    更新日期:2020-07-17 00:00:00

  • Retrospective analysis of the diagnostic yield of newborn drug testing.

    abstract:BACKGROUND:The objective of this study was to identify high-yield screening risk factors for detecting maternal non-medical drug use during pregnancy. METHODS:A four year retrospective analysis was conducted at an academic medical center. Detailed chart review of both the newborn and mother's medical record was perfor...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/1471-2393-14-250

    authors: Wood KE,Sinclair LL,Rysgaard CD,Strathmann FG,McMillin GA,Krasowski MD

    更新日期:2014-07-29 00:00:00

  • Factors influencing deliveries at health facilities in a rural Maasai Community in Magadi sub-County, Kenya.

    abstract:BACKGROUND:In response to poor maternal, newborn, and child health indicators in Magadi sub-county, the "Boma" model was launched to promote health facility delivery by establishing community health units and training community health volunteers (CHVs) and traditional birth attendants (TBAs) as safe motherhood promoter...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章

    doi:10.1186/s12884-017-1632-x

    authors: Karanja S,Gichuki R,Igunza P,Muhula S,Ofware P,Lesiamon J,Leshore L,Kyomuhangi-Igbodipe LB,Nyagero J,Binkin N,Ojakaa D

    更新日期:2018-01-03 00:00:00

  • Conditional cash transfers to prevent mother-to-child transmission in low facility-delivery settings: evidence from a randomised controlled trial in Nigeria.

    abstract:BACKGROUND:Nigeria suffers from the highest burden of mother-to-child transmission worldwide. To increase retention in care and prevention programmes, we piloted and evaluated a conditional cash transfer (CCT) programme for preventing mother-to-child transmission (PMTCT) in Akwa Ibom, Nigeria. METHODS:In a randomised ...

    journal_title:BMC pregnancy and childbirth

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1186/s12884-019-2172-3

    authors: Liu JX,Shen J,Wilson N,Janumpalli S,Stadler P,Padian N

    更新日期:2019-01-16 00:00:00