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    Prenatal Diagnosis of Anal Atresia E A Case: Sciencedirect

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    Andrian drs
    This case report describes the prenatal diagnosis of anal atresia. Key findings included dilated colon, absent anal pit on ultrasound at 21 weeks, and no visible perianal muscular complex or target sign, suggesting high-type anal atresia. The baby was born at term with confirmed high-type anal atresia and also esophageal atresia with tracheo-esophageal fistula. Prenatal diagnosis of anal atresia is challenging but indirect findings include dilated distal bowel and calcified meconium. Direct findings are absence of perianal muscular complex and no target sign seen on ultrasound.

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    Prenatal Diagnosis of Anal Atresia E A Case: Sciencedirect

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    Andrian drs
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    This case report describes the prenatal diagnosis of anal atresia. Key findings included dilated colon, absent anal pit on ultrasound at 21 weeks, and no visible perianal muscular complex or target sign, suggesting high-type anal atresia. The baby was born at term with confirmed high-type anal atresia and also esophageal atresia with tracheo-esophageal fistula. Prenatal diagnosis of anal atresia is challenging but indirect findings include dilated distal bowel and calcified meconium. Direct findings are absence of perianal muscular complex and no target sign seen on ultrasound.

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    This case report describes the prenatal diagnosis of anal atresia. Key findings included dilated colon, absent anal pit on ultrasound at 21 weeks, and no visible perianal muscular complex or target sign, suggesting high-type anal atresia. The baby was born at term with confirmed high-type anal atresia and also esophageal atresia with tracheo-esophageal fistula. Prenatal diagnosis of anal atresia is challenging but indirect findings include dilated distal bowel and calcified meconium. Direct findings are absence of perianal muscular complex and no target sign seen on ultrasound.

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    63 views4 pages

    Prenatal Diagnosis of Anal Atresia E A Case: Sciencedirect

    Uploaded by

    Andrian drs
    This case report describes the prenatal diagnosis of anal atresia. Key findings included dilated colon, absent anal pit on ultrasound at 21 weeks, and no visible perianal muscular complex or target sign, suggesting high-type anal atresia. The baby was born at term with confirmed high-type anal atresia and also esophageal atresia with tracheo-esophageal fistula. Prenatal diagnosis of anal atresia is challenging but indirect findings include dilated distal bowel and calcified meconium. Direct findings are absence of perianal muscular complex and no target sign seen on ultrasound.

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    of 4

    Journal of Medical Ultrasound (2017) 25, 180e183

    Available online at www.sciencedirect.com

    ScienceDirect
    Chinese Taipei Society of
    Ultrasound in Medicine
    journal homepage: www.jmu-online.com

    LETTER TO THE EDITOR

    Prenatal Diagnosis of Anal Atresia e A Case


    Report
    Yu-Ching Chou*, Wan-Ting Chang

    Fetal Medicine Center, Taiji Clinic, Taipei, Taiwan

    Received 10 March 2017; accepted 24 April 2017


    Available online 9 June 2017

    KEYWORDS Abstract Anal atresia can be divided into high type and low type depending on the relation-
    anal atresia, ship between the distal rectal pouch and the puborectalis muscle. Prenatal diagnosis of anal
    PAMC (perianal atresia is very challenging. Indirect findings include dilated distal bowel segments and calcified
    muscular complex), intraluminal meconium in 2nd & 3rd trimester. Direct findings include no PAMC (perianal
    target sign muscular complex) and no target sign (hypoechoic anal sphincter and echogenic anal mucosa).
    PAMC is intact in low atresia, no PAMC can only be applied to high atresia. A visible echogenic
    anal mucosa excludes all cases of high atresia and most cases of low atresia, with the excep-
    tion of the mildest cases with only a thin membrane covering the anal opening.
    ª 2017, Elsevier Taiwan LLC and the Chinese Taipei Society of Ultrasound in Medicine. This is
    an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/
    by-nc-nd/4.0/).

    A 38-year-old (gravida 1, para 0) woman was referred to our single umbilical artery and aberrant right subclavian artery
    clinic because of abnormal findings of fetal ultrasound. Ul- (ARSA). Anal atresia was highly suspected then. We followed
    trasound examination at 20 weeks’ gestation at other clinic the fetus at 25 weeks’ gestation, and the fetal stomach could
    revealed an abdominal mass of unknown origin. However, not be well expanded at this time. After consultation with
    after detailed second-trimester anatomical scanning at 21 geneticist, the patient opted against further genetic testing.
    weeks’ gestation, we found the previously described The baby was born at 40 weeks’ gestation, and high-type anal
    abdominal mass turned out to be a dilated colon loop. In atresia was confirmed (Fig. 3). Nevertheless, esophageal
    addition to colon dilatation 1.09 cm (Fig. 1), we also atresia with trachea-esophageal fistula was also noticed.
    discovered absent anal pit in the uro-genital region (Fig. 2), The newborn underwent esophageal re-anastomosis surgery

    Conflicts of interest: The authors have no conflicts of interest relevant to this article.
    * Correspondence to: Yu-Ching Chou, Fetal Medicine Center, Taiji Clinic, 162, Section 2, Chung-Shan North Road, Taipei 104, Taiwan.
    Fax: þ886 2 25953710.
    E-mail address: [email protected] (Y.-C. Chou).

    http://dx.doi.org/10.1016/j.jmu.2017.05.002
    0929-6441/ª 2017, Elsevier Taiwan LLC and the Chinese Taipei Society of Ultrasound in Medicine. This is an open access article under the
    CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
    Letter to the Editor 181

    Figure 1 Colon dilatation.

    and colostomy soon after birth. The baby is now 11 months


    old and is doing very well.
    Prenatal diagnosis of esophageal atresia is very chal-
    lenging since more than 90% of esophageal atresia cases
    are associated with tracheo-esophageal fistula. The fetal
    stomach can still be filled with amniotic fluid bypassing
    from the trachea. The only hint to in-utero diagnosis is a
    “small” gastric bubble. However, there is no defined
    measurement for fetal gastric bubbles [1]. The fetal
    stomach appeared to be normally dilated at 21 weeks’
    scan (Fig. 6). That’s why esophageal atresia with Figure 3 Anal atresia is confirmed postnatally.
    trachea-esophageal fistula was missed prenatally in this
    case.
    Anal atresia is a relatively common congenital anom- pouch and the puburectalis muscle [1]. Perianal muscular
    aly, with an incidence of about one in every 1500 to 5000 complex (PAMC), namely the puborectalis muscle, internal
    live births. Most cases are sporadic. Some are associated anal sphincter and external anal sphincter, is responsible
    with trisomy 18 or 21. No associated genetic defects are for the continence of the anus [2]. In high anal atresia, the
    found. PAMC is poorly developed leaving only internal anal
    Anal atresia can be divided into high type and low type sphincter. In low anal atresia, the entire anal sphincter is
    depending on the relationship between the distal rectal intact.

    Figure 2 Absent anal pit in the urogenital region.


    182 Y.-C. Chou, W.-T. Chang

    Figure 4 Echogenic meconium in bowel lumen by Ochoa et al. [2].

    Prenatal diagnosis of anal atresia is very challenging Indirect findings include dilated distal bowel segments,
    given the wide spectrum of anomalies. There is no golden and calcified intraluminal meconium or enterolithiasis in
    standard but some indirect as well as direct findings 2nd & 3rd trimester (Fig. 4) [2]. Direct findings include no
    exist. PAMC and no target sign (anal sphincter and anal mucosa)
    (Fig. 5).
    The dilatation of distal bowel segment may be transient.
    Sometimes the bowels may appear completely normal
    prenatally. Calcified intraluminal meconium is caused by

    Figure 5 Normal anal pit. Yellow circle indicates the typical


    target sign: hyperechoic anal mucosa surrounded by hypo-
    echoic anal sphincter. Figure 6 Normally dilated fetal stomach.
    Letter to the Editor 183

    alkalization of fetal meconium by urine flow from rec- References


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