Rashmi Rao1, Jeffrey Gornbein2, Yalda Afshar1, Lawrence D Platt1,3, Greggory R DeVore1, Deborah Krakow4,1,5,3. 1. Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. 2. Department of Biomathematics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. 3. Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA, USA. 4. Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. 5. Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Abstract
OBJECTIVES: The objectives of this study are to develop gestational age-specific growth curves for fetal third metacarpal and phalangeal lengths and to determine if fetal hand proportion is established in utero. METHODS: This prospective cross-sectional study used 2D ultrasound across gestational ages 12 to 39 weeks to evaluate the third fetal metacarpal and phalangeal measurements. Gestational age-specific reference growth curves were developed. Associations between continuous variables were assessed using Spearman correlations (rs ) and restricted cubic splines. A nonlinear biologic regression model was used to predict metacarpal and phalangeal lengths as a function of gestational age. Measurements derived from five cases of thanatophoric dysplasia were used to determine if brachydactyly could be objectified. RESULTS: Fetal metacarpal and phalangeal lengths are highly correlated across gestational age (rs = 0.96, P < 0.001). The mean fetal metacarpal to phalangeal ratio is constant from gestational age 15 to 39 weeks (rs = -0.07, P = 0.49). Third-digit metacarpal and phalangeal lengths in thanatophoric dysplasia showed brachydactyly in all cases (5/5), and none of the cases (0/5) demonstrated a normal metacarpal to phalangeal ratio of 0.49. CONCLUSION: We present gestational age-specific reference growth curves for fetal third metacarpal and phalangeal lengths, which may be used to detect brachydactyly. We demonstrate a prenatal metacarpal to phalangeal ratio of 1:2.
OBJECTIVES: The objectives of this study are to develop gestational age-specific growth curves for fetal third metacarpal and phalangeal lengths and to determine if fetal hand proportion is established in utero. METHODS: This prospective cross-sectional study used 2D ultrasound across gestational ages 12 to 39 weeks to evaluate the third fetal metacarpal and phalangeal measurements. Gestational age-specific reference growth curves were developed. Associations between continuous variables were assessed using Spearman correlations (rs ) and restricted cubic splines. A nonlinear biologic regression model was used to predict metacarpal and phalangeal lengths as a function of gestational age. Measurements derived from five cases of thanatophoric dysplasia were used to determine if brachydactyly could be objectified. RESULTS: Fetal metacarpal and phalangeal lengths are highly correlated across gestational age (rs = 0.96, P < 0.001). The mean fetal metacarpal to phalangeal ratio is constant from gestational age 15 to 39 weeks (rs = -0.07, P = 0.49). Third-digit metacarpal and phalangeal lengths in thanatophoric dysplasia showed brachydactyly in all cases (5/5), and none of the cases (0/5) demonstrated a normal metacarpal to phalangeal ratio of 0.49. CONCLUSION: We present gestational age-specific reference growth curves for fetal third metacarpal and phalangeal lengths, which may be used to detect brachydactyly. We demonstrate a prenatal metacarpal to phalangeal ratio of 1:2.
Authors: A Rosano; L D Botto; R S Olney; M J Khoury; A Ritvanen; J Goujard; C Stoll; G Cocchi; P Merlob; O Mutchinick; M C Cornel; E E Castilla; M L Martínez-Frías; G Zampino; J D Erickson; P Mastroiacovo Journal: Am J Med Genet Date: 2000-07-17
Authors: Yuan Xue; Angela Sun; P Betty Mekikian; Jorge Martin; David L Rimoin; Ralph S Lachman; William R Wilcox Journal: Mol Genet Genomic Med Date: 2014-08-05 Impact factor: 2.183
Authors: Jinxi Li; James D Glover; Haiguo Zhang; Meifang Peng; Jingze Tan; Chandana Basu Mallick; Dan Hou; Yajun Yang; Sijie Wu; Yu Liu; Qianqian Peng; Shijie C Zheng; Edie I Crosse; Alexander Medvinsky; Richard A Anderson; Helen Brown; Ziyu Yuan; Shen Zhou; Yanqing Xu; John P Kemp; Yvonne Y W Ho; Danuta Z Loesch; Lizhong Wang; Yingxiang Li; Senwei Tang; Xiaoli Wu; Robin G Walters; Kuang Lin; Ruogu Meng; Jun Lv; Jonathan M Chernus; Katherine Neiswanger; Eleanor Feingold; David M Evans; Sarah E Medland; Nicholas G Martin; Seth M Weinberg; Mary L Marazita; Gang Chen; Zhengming Chen; Yong Zhou; Michael Cheeseman; Lan Wang; Li Jin; Denis J Headon; Sijia Wang Journal: Cell Date: 2022-01-06 Impact factor: 41.582